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Updated: Jun 6, 2025

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扩大与PHIP相关的神经发育现象型

Giulia Pascolini1, Giovanni Luca Scaglione2, Balasubramanian Chandramouli3

  • 1Genetic Counselling Unit, Istituto Dermopatico dell'Immacolata, IDI-IRCCS, Via dei Monti di Creta 104, 00167 Rome, Italy.

Children (Basel, Switzerland)
|November 27, 2024
PubMed
概括

一种新的PHIP变异扩大了根-詹森综合征 (CHUJANS) 谱,呈现出异常类似于皮特-霍普金斯综合征 (PTHS) 的情况. 这一发现扩大了对神经发育障碍及其遗传基础的理解.

关键词:
关詹森综合症 (CHUJANS) 是一个菲比 (Philip) 是一个很有价值的人.皮特·霍普金斯综合征 (PTHS) 类似的表型不正常的皮肤附属物.神经发育的神经发育牙异常 牙异常

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Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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