All individuals with variants in gene NADSYN1

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00180695 - PubMed: Yang 2014 Chinese Han cohort F;M - China Chinese Han - - for details see the Uveogene database - Behcet - 1 908 Peizeng Yang
00275603 Fam1PatII1 PubMed: Szot 2020 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents M - - - - - - - ? see paper; ...,, thoracic vertebral defect; hypoplastic mitral valve with borderline hypoplastic left ventricle, small bicuspid aortic valve and tubular hyperplasia of the left aortic arch with coarctation, anomalous origin of the left coronary artery from the right pulmonary artery; absent left kidney; bilateral shortening of humeri and femora; sacral dimple 1 2 Johan den Dunnen
00275604 Fam1PatII2 PubMed: Szot 2020 sister F - - - - - - - ? see paper; ..., multiple segmentation and formation defects of the thoracic, lumbar, and sacral spine; absent left ventricle and pulmonary trunk, right ventricular outlet to the aorta; bilateral hypoplastic kidneys; short humeri and femora 1 1 Johan den Dunnen
00275605 Fam2PatII1 PubMed: Szot 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - ? see paper; ..., scoliosis with multiple malformed vertebral anomalies and rib abnormalities; double outlet right ventricle, transposition of the great arteries in side by side orientation, doubly committed ventricular septal defect, bidirectional patent ductus arteriosu, left aortic arch; mild hyperechoic renal cortex; birth length: 45.5 cm, short proximal long bones, bowing of lower extremities; closed sacral dimple with tuft of hair 2 1 Johan den Dunnen
00275606 Fam3PatII4 PubMed: Szot 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - ? see paper; ..., oligohydramnios, bilateral renal agenesis 2 1 Johan den Dunnen
00275607 Fam4PatII1 PubMed: Szot 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - ? see paper; ..., left renal and ureter agenesis; micromelia, bilateral club feet; hydrocephalus, small thorax, echogenic bowel, flat nose and low set ears, edema, polysplenia, pulmonary hypoplasia 2 1 Johan den Dunnen
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