Genetic Disorders and the Fetus. Группа авторов

Neurofibromatosis type 2 NF2 ⁹³⁰ Ohtahara syndrome STXBP1 ⁹³¹ Ollier disease IDHI ⁹²⁴ Ornithine transcarbamylase deficiency OTC ⁸⁸⁸ Osteochondromas EXT ⁹³² Osteogenesis imperfecta II COL1A1, COL1A2 ⁸⁸⁸ Osteopathia striata AMER1 ⁹³³ Otopalatodigital syndrome FLNA ⁸⁸⁸ Paroxsysmal nocturnal hemoglobinuria PIGA ⁸⁸⁸ Phenylketonuria PAH ⁸⁸⁸ Pheochromocytomas and hemihyperplasia UPD 11p15 ⁹³⁴ Pitt–Hopkins syndrome TCF4 ⁹³⁵ Polycythemia–paraganglioma syndrome HIF2A ⁹³⁶ Progeria LMNA ⁹³⁷ Proteus syndrome AKT1 ⁹³⁸ Pseudohypoparathyroidism type 1a GNAS ⁹³⁹ Pyruvate dehydrogenase complex disorder PDHA1 ⁹⁴⁰ Retinitis pigmentosa RPGR ⁹⁴¹ Retinoblastoma RB1 ⁹⁴² Rett syndrome in males MECP2 ⁹⁴³ Rett syndrome, atypical CDKL5 ⁹⁴⁴ Rubinstein–Taybi syndrome CREBBP ^{945 , 946} Shprintzen–Goldberg syndrome SKI ⁹⁴⁷ Sotos syndrome NSD1 ⁹⁴⁸ Spondyloperipheral dysplasia COL2A1 ⁹⁴⁹ Stickler syndrome COL2A1 ⁸⁹⁶ Subcortical band heterotopia and pachygyria LIS1 ⁹⁵⁰ Testicular dysgenesis syndrome SRY ⁹⁵¹ Thanatophoric dysplasia FGFR3 ⁸⁸⁸ Timothy syndrome type 1 CACNA1C ⁹⁵² Townes–Brock syndrome SALL1 ⁸⁸⁸ Uniparental disomies – ⁹⁵³ Von Hippel–Lindau VHL ⁸⁸⁸ Wiskott–Aldrich syndrome WASP ⁹⁵⁴ X‐linked anhidrotic ectodermal dysplasia with immunodeficiency NEMO ⁹⁵⁵ X‐linked chronic granulomatous disease CYBB ⁹⁵⁶ X‐linked craniofrontonasal syndrome EFNB1 ⁹⁵⁷ X‐linked creatine deficiency SLC6A8