All individuals with variants in gene LEMD2

4 entries on 1 page. Showing entries 1 - 4.
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00222778 Pat1 PubMed: Marbach 2019, Journal: Marbach 2019 - M - Germany - - - - - progeroid see paper; ..., triangular face, prominent eyes, crooked nose, septum deviation, mandibular hypoplasia; no juvenile alopezia, no loss of eyebrows, thin skin, prominent veins, no cutis laxa, no patchy hyperpigmentation, no dystrophic nails; generalized lipoatrophy; microcephaly; Wormian bones, no open cranial sutures, dental crowding, supernumerary teeth, delayed dentition; short stature, low bone density, hypoplastic clavicles, no osteolytic foci, no joint hyperlaxity, no limited joint mobility; intra-uterine growth retardation; no atherosclerosis; intention tremor; no developmental delay 1 1 Davor Lessel
00222781 Pat2 PubMed: Marbach 2019, Journal: Marbach 2019 - M - Norway - - - - - progeroid see paper; ..., triangular face, prominent eyes, crooked nose, septum deviation, mandibular hypoplasia; no juvenile alopezia, no loss of eyebrows, thin skin, prominent veins, no cutis laxa, no patchy hyperpigmentation, no dystrophic nails; generalized lipoatrophy; microcephaly; Wormian bones, no open cranial sutures, dental crowding, supernumerary teeth, delayed dentition; no short stature (32th percentile, growth hormone treatment), no low bone density, hypoplastic clavicles, no osteolytic foci, no joint hyperlaxity, no limited joint mobility; no intra-uterine growth retardation; no atherosclerosis; intention tremor; no developmental delay 1 1 Davor Lessel
00222816 26788539-FamAR-899 PubMed: Boone 2015 7-generation family, 5 affected (5M), unaffected heterozygous carrier parents/relatives M yes United States Hutterite - - - - CTRCT see paper; ..., juvenile-onset cataract, 3/5 sudden cardiac death 1 5 Johan den Dunnen
00222819 26788539-FamAR-900 PubMed: Boone 2015 9-generation family, 15 affected (7F, 8M), unaffected heterozygous carrier parents/relatives F;M yes United States Hutterite - - - - CTRCT see paper; ..., juvenile-onset cataract and sudden cardiac death 1 15 Johan den Dunnen
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