Genetic Disorders and the Fetus. Группа авторов

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⁸⁸⁸ Androgen insensitivity AR ⁸⁸⁸ Atelostegenesis type I FLNB ⁸⁸⁹ Beta‐propeller protein‐associated neurodegeneration WDR45 ⁸⁹⁰ Campomelic dysplasia SOX9 ⁸⁸⁸ Catecholaminergic polymorphic ventricular tachycardia RYR2 ⁸⁹¹ Centronuclear myopathy DNM2 ⁸⁹² Charcot–Marie–Tooth disease type 1E PMP22 ⁸⁹³ CHARGE syndrome CHD7 ⁸⁸⁸ Chronic infantile neurologic, cutaneous, articular syndrome NLRP3 ^{894 , 895} Chronic intestinal pseudo‐obstruction ACTG2 ⁸⁶⁴ Cleidocranial dysplasia RUNX2 ⁸⁸⁸ COL2A1 disorders COL2A1 ⁸⁹⁶ Congenital central hypoventilation syndrome PHOX2B ⁸⁹⁷ Congenital contractural arachnodactyly FBN2 ⁸⁸⁸ Congenital disorder of glycosylation SLC35A2 ⁸⁹⁸ Congenital lipomatous overgrowth with vascular, epidermal and skeletal anomalies PIK3CA ⁸⁹⁹ Cornelia de Lange syndrome CdLS ⁹⁰⁰ Costello syndrome HRAS ⁹⁰¹ Creutzfeldt–Jakob disease PRNP ⁹⁰² Crouzon syndrome FGFR2 ⁹⁰³ Duchenne muscular dystrophy DMD ^{888 , 904} Ectrodactyly SHFM3 ⁹⁰⁵ EEC (ectrodactyly, ectodermal dysplasia, and orofacial clefts) P63 ⁸⁸⁸ Epidermal nervus, rhabdomyosarcoma, polycystic kidneys and growth restriction KRAS ⁹⁰⁶ Epidermolysis bullosa simplex KRTS 5 ⁸⁸⁸ Epilepsy with mental retardation in females PCDH19 ^{907 , 908} Facial infiltrating lipomatosis PIK3CA ⁹⁰⁹ Familial polymicrogyria TUBA1A ⁹¹⁰ Fanconi anemia FANCD2 ⁹¹¹ Fascioscapular humeral muscular dystrophy D4Z4 ⁸⁸⁸ Freeman–Sheldon syndrome TNNI2 ⁹¹² Gardner syndrome APC ⁹¹³ Hemi‐megalencephaly PIK3CA ⁹¹⁴ Hemophilia A and B F8 and F9 ⁸⁸⁸ Hereditary hemorrhagic telangiectasia associated with pulmonary arterial hypertension ACVRL1 ⁹¹⁵ Hereditary nonpolyposis colon cancer (Lynch syndrome)

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