All individuals with variants in gene LTBP4

18 entries on 1 page. Showing entries 1 - 18.
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00081428 - - - - - China Han - 0 - - 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 caucasian - 0 - - ARCL-1C 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 - - 0 - - ARCL-1C 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 - - 0 - - ARCL-1C 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 caucasian - 0 - - ARCL-1C 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 - 0 - - ARCL-1C 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 - - 0 - - ARCL-1C 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 - - 0 - - ARCL-1C 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 - 0 - - ARCL-1C 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 - 0 - - ARCL-1C 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
00229683 - - - F yes Venezuela - 01y06m 0 - - ARCL-1C - 1 1 Marco Ritelli
00292128 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 3 Mohammed Faruq
00292129 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 11 Mohammed Faruq
00292130 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00292131 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 233 Mohammed Faruq
00292132 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 13 Mohammed Faruq
00292133 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00304661 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
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