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一个新的Helsmoortel-van der Aa综合征病例系列的扩展表型特征

Giulia Pascolini1, Giovanni Di Zenzo2, Annarita Panebianco3

  • 1Rare Diseases Center, Istituto Dermopatico dell'Immacolata, IDI-IRCCS, Rome, Italy.

American journal of medical genetics. Part A
|January 11, 2024
PubMed
概括

赫尔斯莫尔特尔-范德-阿阿综合征 (HVDAS) 与ADNP基因变异相关,导致发育问题和先天异常. 这项研究扩大了临床理解,特别注意意大利患者的皮肤异常.

关键词:
在此之前,ADNP是ADNP.在ADNP综合征中出现ADNP综合征.赫尔斯莫尔特尔·范德阿综合症 (HVDAS) 是一种疾病.意大利案例系列.现象型 现象型 是一种现象型.

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