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EP06.08: Antenatal diagnosis of MPPH‐1‐syndrome: a case report of the rare genetic condition with sonographic detection of fetal megalencephaly

机译：EP06.08：对蛋白的产前诊断 - 综合征：胎儿畸形术后遗传病情的遗传条件的病例报告

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J. Beyer; R. Fröber; I. Schreyer; A. Weise; E. Schleussner; U. Schneider;
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年度 2019
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1. Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis. [J] . Ghayda M Mirzaa, Robert L Conway, Karen W Gripp, American journal of medical genetics, Part A . 2012,第2期

机译：大头畸形-毛细血管畸形（MCAP）和大头畸形-多指-聚小脑积水（MPPH）综合征：两种与大脑过度生长和异常的大脑和身体形态密切相关的疾病。
2. AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH [J] . NakamuraK., KatoM., TohyamaJ., Clinical Genetics: An International Journal of Genetics in Medicine . 2014,第4期

机译：MCAP和MPPH两名巨脑相关综合征的AKT3和PIK3R2突变
3. Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP [J] . MirzaaG.M., RivièreJ.-B., DobynsW.B. American journal of medical genetics, Part C. Seminars in medical genetics . 2013,第2期

机译：巨脑综合征和PI3K-AKT途径中的活化突变：MPPH和MCAP
4. Antenatal fetal heart rate acceleration detection [C] . Philip A. Warrick, Emily F. Hamilton Computing in Cardiology Conference . 2016

机译：产前胎儿心率加速检测
5. Information and Resources Provided to Patients Receiving a Prenatal Diagnosis of Down Syndrome as Reported by Health Care Professionals [D] . King, Annette Marie 2012

机译：根据卫生保健专业人员的报告，向患有唐氏综合症产前诊断的患者提供的信息和资源
6. Case Report: Four-year follow-up of megalencephaly, polymicrogyria, postaxial polydactyly and hydrocephalus (MPPH) syndrome [O] . Tara G Zamora, Kari D Roberts 1991

机译：病例报告：大头畸形，多发性小胶质细胞增多症，后轴多指和脑积水（MPPH）综合征的四年随访
7. Bilateral neck cysts as an isolated sonographic finding in the antenatal detection of fetal aneuploidy: a case report [O] . 2009

机译：双侧颈囊肿在胎儿非整倍性产前检测中作为孤立的超声检查结果：一例

EP06.08: Antenatal diagnosis of MPPH‐1‐syndrome: a case report of the rare genetic condition with sonographic detection of fetal megalencephaly

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