All individuals with variants in gene LTBP4

84 entries on 1 page. Showing entries 1 - 84.
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00081428 - - - - - China Han - - - - OPLL thoracic ossification of the ligamentum flavum, long regional at the thoracic spine 1 1 Xiaochen Qu
00081465 - PubMed: Callewaert 2013, Journal: Callewaert 2013 - F no United States white - - - - ARCL1C cutis laxa - mainly on trunk, little facial involvement diaphragmatic slinding hernia peripheral pulmonary artery stenosis severe bladder diverticula rectal prolapse, joint hypermobility, large ears, beaked nose 2 1 Bert Callewaert
00081466 - PubMed: Callewaert 2013, Journal: Callewaert 2013 - M yes Pakistan - - - - - ARCL1C generalized congenital cutis laxa with facial involvement severe pulmonary emphysema, bronchomalacia peripheral pulmonary artery stenoses hypotonia prominent veins dilated pelvis left kidney 1 1 Bert Callewaert
00081467 - PubMed: Callewaert 2013, Journal: Callewaert 2013 - F no France - - - - - ARCL1C generalized cutis laxa with facial involvement severe pulmonary emphysema peripheral pulmonary artery stenoses hypotonia bladder diverticula large ears, low nasal bridge, prominent veins 2 1 Bert Callewaert
00081468 - PubMed: Callewaert 2013, Journal: Callewaert 2013 - M yes Spain white - - - - ARCL1C generalized cutis laxa with facial involvement severe pulmonary emphysema congentital hernia diaphragmantica (surgery) peripheral pulmonary artery stenoses hypotonia frontal bossing, thin hair growth 1 1 Bert Callewaert
00081469 - PubMed: Callewaert 2013, Journal: Callewaert 2013 - F yes (Afghanistan) middle-east - - - - ARCL1C congenital generalized cutis laxa with facial involvement, inguinal herniae, severe pulmonary emphysema, diaphragmatic hernia (surgery), polyvalvular disease, atrial septum aneurysm, recal rplapse, abdomnial wall herniae, prominent veins 1 1 Bert Callewaert
00081470 - PubMed: Callewaert 2013, Journal: Callewaert 2013 - M yes Turkey - - - - - ARCL1C congenital generalized cutis laxa with facial involvement, pulmonary emphysema, pulmonary and systemic hypertension, late onset GBS sepsis, unilateral pyelic dilatation 1 1 Bert Callewaert
00081471 - PubMed: Callewaert 2013, Journal: Callewaert 2013 - F yes Pakistan - - - - - ARCL1C generalized congenital cutis laxa with facial involvement, diaphragmatic hernia, pulmonary hypertension, perpheral pulmonary artery stenoses, dysplastic pulmonary and aortic valves, atrium septum defect, severe gastro-intestinal diverticula, hypotonia, gastric perforation, polyhydramnion, esohageal tortuosity, gastric perforation, tissue fragility 1 1 Bert Callewaert
00081472 - PubMed: Callewaert 2013, Journal: Callewaert 2013 - F yes Spain unknown - - - - ARCL1C mild cutis laxa (generalized with later onset), mild pulmonary emphysema, perpheral pulmonary artery stenoses, tricuspid regurgitation, prominent forehead, blepharophimosis, epicanthal folds, short nose, elongated philtrum, lowset ears, webbed neck, low posterior hear-line, pelvic insufficiency, brain abcesses. 1 1 Bert Callewaert
00081473 - PubMed: Callewaert 2013, Journal: Callewaert 2013 - M yes - middle-east - - - - ARCL1C congenital generalized cutis laxa with facial involvement, hiatal hernia, severe pulmonary emphysema, mild tricuspid regurgitation, pulmonary hypertension, bladder diverticula, hypotonia, large ears, frontal bossing, broad low nasal bridge, small fontanel, hypdronephrosis, tracheomalacia, joint hypermobility 1 1 Bert Callewaert
00119104 #435 PubMed: Luce 2018 PubMed: Luce 2021 - M ? Argentina - - - - - DMD - 4 1 Florencia Giliberto
00141301 #171 - - M - Argentina - - - - - DMD - 4 1 Florencia Giliberto
00141315 #430 - - M - Argentina - - - - - DMD - 4 1 Florencia Giliberto
00144681 #125 PubMed: Luce 2021 - M - Argentina - - - - - DMD - 1 1 Florencia Giliberto
00144684 #64LP PubMed: Luce 2021 - M - Argentina - - - - - DMD - 4 1 Florencia Giliberto
00229683 - - - F yes Venezuela - 01y06m - - - ARCL1C - 1 1 Marco Ritelli
00266430 #626 PubMed: Luce 2021 - M - Argentina - - - - - DMD - 4 1 Florencia Giliberto
00266435 #378 PubMed: Luce 2021 - M no Argentina - - - - - DMD HP:0001252 (lower limbs, onset 6m), HP:0002540 4 1 Florencia Giliberto
00274472 #153 PubMed: Luce 2016, Journal: Luce 2016 PubMed: Luce 2021 - M - Argentina - - - - - BMD/DMD - 4 1 Florencia Giliberto
00274480 #186 PubMed: Luce 2016, Journal: Luce 2016 PubMed: Luce 2021 - M - Argentina - - - - - BMD/DMD - 1 1 Florencia Giliberto
00274498 #67 PubMed: Luce 2016, Journal: Luce 2016 PubMed: Luce 2021 - M - Argentina - - - - - BMD/DMD - 4 1 Florencia Giliberto
00274505 #616 PubMed: Luce 2016, Journal: Luce 2016 - M - Argentina - - - - - BMD/DMD - 1 1 Florencia Giliberto
00292128 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
00292129 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 11 Mohammed Faruq
00292130 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00292131 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 233 Mohammed Faruq
00292132 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 13 Mohammed Faruq
00292133 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00304661 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00362954 #853 PubMed: Luce 2021 - M - Argentina - - - - - MD - 4 1 Florencia Giliberto
00362968 #273 PubMed: Luce 2021 - M - Argentina - - - - - MD - 1 1 Florencia Giliberto
00362976 #294 PubMed: Luce 2021 - M - Argentina - - - - - MD - 1 1 Florencia Giliberto
00363002 #477 PubMed: Luce 2021 del-dup M - Argentina - - - - - MD - 4 1 Florencia Giliberto
00363006 #507 PubMed: Luce 2021 - M - Argentina - - - - - MD - 4 1 Florencia Giliberto
00363046 #676 PubMed: Luce 2021 - M - Argentina - - - - - MD - 4 1 Florencia Giliberto
00363061 #644 PubMed: Luce 2021 - M - Argentina - - - - - MD - 4 1 Florencia Giliberto
00363104 #800 PubMed: Luce 2021 - M - Argentina - - - - - MD - 1 1 Florencia Giliberto
00462133 #874 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment BMD/DMD 9y-loss ambulation 1 1 Florencia Giliberto
00462134 #69LP PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment BMD/DMD 10y-loss ambulation 1 1 Florencia Giliberto
00462135 #832 PubMed: Luce 2024 - M - Argentina - - - - - BMD/DMD 10y-loss ambulation 4 1 Florencia Giliberto
00462136 #52LP PubMed: Luce 2024 - M - Argentina - - - - - BMD/DMD 11y-loss ambulation 4 1 Florencia Giliberto
00462137 #94 PubMed: Luce 2024 - M - Argentina - - - - - BMD/DMD 8y-loss ambulation 1 1 Florencia Giliberto
00462138 #554 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment BMD/DMD 8y-loss ambulation 1 1 Florencia Giliberto
00462139 #263 PubMed: Luce 2024 - M - Argentina - - - - - BMD/DMD 8y-loss ambulation; biopsy compatible with DMD 4 1 Florencia Giliberto
00462140 #184LP PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment BMD/DMD 11y-loss ambulation; biopsy compatible with DMD 1 1 Florencia Giliberto
00462141 #879 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment BMD/DMD 10y-loss ambulation 4 1 Florencia Giliberto
00462142 #137 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment BMD/DMD 10y-loss ambulation 4 1 Florencia Giliberto
00462143 #229LP PubMed: Luce 2024 - M - Argentina - - - - - BMD/DMD 8y-loss ambulation 4 1 Florencia Giliberto
00462144 #658 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment BMD/DMD 11y-loss ambulation; biopsy compatible with DMD 4 1 Florencia Giliberto
00462145 #864 PubMed: Luce 2024 - M - Argentina - - - - - BMD/DMD 8y-loss ambulation 4 1 Florencia Giliberto
00462146 #15LP PubMed: Luce 2024 - M - Argentina - - - - - BMD/DMD 11y-loss ambulation 1 1 Florencia Giliberto
00462147 #915 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment BMD/DMD 10y-loss ambulation; biopsy compatible with DMD 4 1 Florencia Giliberto
00462148 #431 PubMed: Luce 2024 - M - Argentina - - - - - BMD/DMD 9y-loss ambulation 1 1 Florencia Giliberto
00462149 #467 PubMed: Luce 2024 - M - Argentina - - - - - BMD/DMD 6y-loss ambulation; biopsy compatible with DMD 4 1 Florencia Giliberto
00462150 #195LP PubMed: Luce 2024 - M - Argentina - - - - - BMD/DMD 10y-loss ambulation; biopsy compatible with DMD 1 1 Florencia Giliberto
00462151 #564 PubMed: Luce 2024 - M - Argentina - - - - - BMD/DMD 6y-loss ambulation; biopsy compatible with DMD 4 1 Florencia Giliberto
00462152 #47LP PubMed: Luce 2024 - M - Argentina - - - - - BMD/DMD 6y-loss ambulation; biopsy compatible with DMD 4 1 Florencia Giliberto
00462153 #169LP PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment BMD/DMD 8y-loss ambulation 1 1 Florencia Giliberto
00462154 #238LP PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment BMD/DMD 10y-loss ambulation 4 1 Florencia Giliberto
00462155 #68LP PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment BMD/DMD 11y-loss ambulation 4 1 Florencia Giliberto
00462156 #677 PubMed: Luce 2024 - M - Argentina - - - - - BMD/DMD 7y-loss ambulation 1 1 Florencia Giliberto
00462157 #747 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment BMD/DMD 10y-loss ambulation; biopsy compatible with DMD 4 1 Florencia Giliberto
00462158 #432 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment BMD/DMD 23y-loss ambulation; biopsy compatible with DMD 4 1 Florencia Giliberto
00462159 #34LP PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment BMD/DMD 17y-loss ambulation; biopsy compatible with DMD 4 1 Florencia Giliberto
00462160 #545 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment BMD/DMD 19y-loss ambulation; biopsy compatible with DMD 4 1 Florencia Giliberto
00462161 #66LP PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment BMD/DMD 17y-loss ambulation; biopsy compatible with DMD 1 1 Florencia Giliberto
00462162 #516 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment BMD/DMD 21y-loss ambulation; biopsy compatible with DMD 1 1 Florencia Giliberto
00462163 #823 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment BMD/DMD 16y-loss ambulation; biopsy compatible with DMD 1 1 Florencia Giliberto
00462164 #72LP PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment BMD/DMD 17y-loss ambulation 4 1 Florencia Giliberto
00462165 #212LP PubMed: Luce 2024 - M - Argentina - - - - - BMD/DMD 19y-loss ambulation; biopsy compatible with DMD 4 1 Florencia Giliberto
00462166 #81LP PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment BMD/DMD 20y-loss ambulation; biopsy compatible with DMD 4 1 Florencia Giliberto
00462167 #182LP PubMed: Luce 2024 - M - Argentina - - - - - BMD/DMD 21y-loss ambulation; biopsy compatible with DMD 4 1 Florencia Giliberto
00462168 #912 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment BMD/DMD 16y-loss ambulation; biopsy compatible with DMD 2 1 Florencia Giliberto
00462169 #888 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment BMD/DMD 16y-loss ambulation; biopsy compatible with DMD 1 1 Florencia Giliberto
00462170 #39LP PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment BMD/DMD 21y-loss ambulation; biopsy compatible with DMD 4 1 Florencia Giliberto
00462171 #228 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment BMD/DMD 20y-loss ambulation; biopsy compatible with DMD 4 1 Florencia Giliberto
00462172 #132 PubMed: Luce 2024 - M - Argentina - - - - - BMD/DMD 15y-loss ambulation; biopsy compatible with DMD 1 1 Florencia Giliberto
00462173 #420 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment BMD/DMD 16y-loss ambulation; biopsy compatible with DMD 1 1 Florencia Giliberto
00462174 #283 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment BMD/DMD 19y-loss ambulation; biopsy compatible with DMD 4 1 Florencia Giliberto
00462175 #184 PubMed: Luce 2024 - M - Argentina - - - - - BMD/DMD 18y-loss ambulation 1 1 Florencia Giliberto
00462176 #48LP PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment BMD/DMD 20y-loss ambulation; biopsy compatible with DMD 4 1 Florencia Giliberto
00462177 #584 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment BMD/DMD 21y-loss ambulation; biopsy compatible with DMD 4 1 Florencia Giliberto
00462178 #523 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment BMD/DMD 18y-loss ambulation; biopsy compatible with DMD 1 1 Florencia Giliberto
00462179 #13LP PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment BMD/DMD 17y-loss ambulation; biopsy compatible with DMD 4 1 Florencia Giliberto
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