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Updated: Jul 8, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

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在一个患有风的家庭中,同时出现PHEX和ALPL突变的新案例

Carmen Polanco Santos1, Juana Cordero Garate2, Leila Zeinab Khan1

  • 1Endocrinology and Metabolism Institute, Cleveland Clinic Foundation, Cleveland, OH 44195, USA.

JCEM case reports
|December 11, 2023
PubMed
概括

这项研究报告了第一个已知的X链接低度血症 (XLH) 和成人低度血症 (HPP) 的已知病例,原因是PHEX和ALPL基因中的致病变异. 诊断需要仔细的遗传和实验室测试,因为重叠的症状.

关键词:
在ALPL ALPL中,我们可以看到在PHEXX中,PHEX就是PHEX.这就是Burosumab-TWSA.低酸盐症 (hypophosphatasia) 是一种低酸盐血症 (hypophosphatemia) 是一种疾病.拉基茨 (Rickets) 是一种精神疾病.

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