Genetic Disorders and the Fetus. Группа авторов

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) MLH1 ⁹¹⁶ Hereditary spastic paraplegia SPG4 ⁸⁸⁸ Hunter syndrome IDS ⁸⁸⁸ Hyper‐IgE syndrome STAT3 ⁹¹⁷ Hypocalcemia CASR ⁸⁸⁸ Infantile spinal muscular atrophy SMN1 ⁸⁸⁸ Intellectual disability GATAD ₂ B ⁹¹⁸ Isolated growth hormone deficiency GH1 ⁹¹⁹ Juvenile myelomonocytic leukemia NRAS ⁹²⁰ Keratinocyte epidermal nevi RAS ⁹²¹ Lesch–Nyhan syndrome HPRT1 ⁸⁸⁸ Li–Fraumeni syndrome TP53 ⁹²² Loeys–Dietz syndrome TGFBR2 ⁸⁸⁸ Lone atrial fibrillation Cx43 ⁹²³ Maffuci syndrome IDHI ⁹²⁴ Marfan syndrome FBN1 ⁸⁸⁸ McCune–Albright syndrome GNAS1 ⁸⁸⁸ Metaphyseal chondromatosis with D‐2‐hydroxyglutaric aciduria IDH1 ⁹²⁵ MYH9 disorders MYH9 ⁸⁸⁸ Myoclonic epilepsy SCN1A ⁸⁸⁸ Myofibrillar myopathy BAG3 ⁹²⁶ Myotonic dystrophy type 2 ZNF9 ⁹²⁷ Nail–patella syndrome LMX1B ⁹²⁸ Neonatal diabetes KCNJ11 ⁸⁸⁸ Neurofibromatosis type 1 (generalized and segmental) NF1 ⁹²⁹