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微缺失和微重复综合征

Posted by阿尔贝托·阿尔坎图德 2022 年 8 月 13 日2022 年 8 月 25 日
Sindromes de microdelección y microduplicación
Van der Woude syndrome Trombocitopenia-absent radius Tuberous sclerosis Rubinstein Taybi syndrome CHARGE syndrome Langer Gideon syndrome Holoprosencefalia tipo 2 Mowat Wilson syndrome Holoprosencefalia tipo 7 Miller Dieker syndrome Charcot-Marie-Tooth 1A; Neuropatía hereditaria con susceptibilidad a las parálisis por presión Smith-Magenis syndrome Neurofibromatosis tipo 1 Complejo de Carney Von Hipple-Lindau syndrome Pitt-Hopkins syndrome Wolf-Hirschhorn syndrome Beckwith-Wiedeman syndrome Silver-Russell syndrome Síndrome WAGR Jackobsen syndrome Diamond Blackfan anemia Cri du Chat syndrome Cornelia de Lange syndrome Atrofia muscular espinal Sindrome de Sotos Allagille syndrome Kleefstra syndrome Koolen de Vries syndrome Phelan-McDermid syndrome Rett syndrome/MeCP2 related disorders Cat-Eye syndrome Di George syndrome Williams-Bleuren syndrome Léri-Weil disostosis (SHOX) Ictiosis ligada al X (Steroid sulphatase). Kallman syndrome Angelman syndrome/Prader Willi region Prader-Willi syndrome Down syndrome critical region microduplication (partial trisomy 21)
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