支持PDCD6IP基因导致神经发育障碍伴小头畸形的进一步病例

IF 2.3 3区医学 Q2 GENETICS & HEREDITY

Clinical Genetics Pub Date : 2025-07-16 DOI:10.1111/cge.70025

Alfonso Manuel D'Alessio, Annalaura Torella, Manuela Morleo, Vincenzo Nigro, TUDP Study Group, Nicola Brunetti-Pierri

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引用次数: 0

摘要

PDCD6IP双等位基因变异患者的临床和分子研究综述

本文章由计算机程序翻译，如有差异，请以英文原文为准。

A Further Case Supporting PDCD6IP as the Gene Responsible for a Neurodevelopmental Disorder With Microcephaly

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A Further Case Supporting PDCD6IP as the Gene Responsible for a Neurodevelopmental Disorder With Microcephaly

Summary of clinical and molecular findings in patients with biallelic variants in PDCD6IP.

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来源期刊

Clinical Genetics 医学-遗传学

CiteScore

6.50

自引率

0.00%

发文量

175

审稿时长

3-8 weeks

期刊介绍： Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice. Topics of particular interest are: • Linking genetic variations to disease • Genome rearrangements and disease • Epigenetics and disease • The translation of genotype to phenotype • Genetics of complex disease • Management/intervention of genetic diseases • Novel therapies for genetic diseases • Developmental biology, as it relates to clinical genetics • Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease