Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature.

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作者： Solveig,Heide ^[1] ; Alexandra,Afenjar ^[2] ; Patrick,Edery ^[3] ; Damien,Sanlaville ^[3] ; Boris,Keren ^[4] ; Alexandre,Rouen ^[5] ; Alinoë,Lavillaureix ^[5] ; Capucine,Hyon ^[5] ; Diane,Doummar ^[6] ; Jean-Pierre,Siffroi ^[5] ; Sandra,Chantot-Bastaraud ^[5]

作者单位： APHP, Hôpital Armand-Trousseau, Service de Génétique et d'Embryologie médicales, Paris, 75012, France. Electronic address: heide.solveig@gmail.com. ^[1] APHP, Hôpital Armand-Trousseau, Service de Génétique Clinique, Paris, 75012, France; APHP, Hôpital Armand-Trousseau, Service de Neuropédiatrie, Paris, 75012, France. ^[2] Hospices Civils de Lyon, Service de Génétique Clinique et Laboratoire de Cytogénétique, Lyon, 69000, France; Centre de Recherche en Neurosciences de Lyon, Inserm U1028, UMR5292, UCBL, Lyon, 69000, France. ^[3] APHP, Groupe Hospitalier Pitié-Salpêtrière, Service de Cytogénétique, Paris, 75013, France. ^[4] APHP, Hôpital Armand-Trousseau, Service de Génétique et d'Embryologie médicales, Paris, 75012, France. ^[5] APHP, Hôpital Armand-Trousseau, Service de Neuropédiatrie, Paris, 75012, France. ^[6]

关键词 Duchenne muscular dystrophy Glycerol kinase deficiency Intellectual disability X-chromosome Xp21 deletion

主题词肾上腺功能减退(Adrenal Insufficiency);碳水化合物代谢障碍, 先天性(Carbohydrate Metabolism, Inborn Errors);儿童(Child);染色体, 人, X(Chromosomes, Human, X);女(雌)性(Female);基因缺失(Gene Deletion);遗传性疾病, X连锁(Genetic Diseases, X-Linked);甘油激酶(Glycerol Kinase);人类(Humans);肌营养不良, 杜氏(Muscular Dystrophy, Duchenne);综合征(Syndrome);青年人(Young Adult)

DOI 10.1016/j.ejmg.2015.04.003

PMID 25917374

发布时间 2019-02-21

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European journal of medical genetics

341-5页

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Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature.

European journal of medical genetics

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European journal of medical genetics

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Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature.

European journal of medical genetics

相似文献

European journal of medical genetics

相关期刊

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