Genetic Disorders and the Fetus. Группа авторов

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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 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

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