Carpenter-Waziri syndrome results from a mutation in XNP
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference18 articles.
1. X-linked mental retardation syndrome with characteristic ?coarse? facial appearance, brachydactyly, and short stature maps to proximal Xq
2. Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein
3. Mutations in a putative global transcriptional regulator cause X-linked mental retardation with α-thalassemia (ATR-X syndrome)
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1. Identification of a Hemizygous Novel Splicing Variant in ATRX Gene: A Case Report and Literature Review;Frontiers in Pediatrics;2022-04-04
2. ATR‐X;Cassidy and Allanson's Management of Genetic Syndromes;2020-10-30
3. A novel ATRX mutation causes Smith‑Fineman‑Myers syndrome in a Chinese family;Molecular Medicine Reports;2019-11-12
4. Helicase Dysfunctions in Human Diseases;Helicases from All Domains of Life;2019
5. Alpha-Thalassemia X-Linked Mental Retardation Syndrome;Atlas of Genetic Diagnosis and Counseling;2017
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