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Article

Clinical Insights From a Case of Sifrim-Hitz-Weiss Syndrome With a CHD4 Variant: Expanding the Phenotypic Spectrum and Its Response to Growth Hormone Therapy.

American journal of medical genetics. Part A - 1 Jun 2026

Zhang Jianmei, Chen Shuangzhong, Dong Guanping, Yang Suhong, Wang Ping, Zhou Qiong, Wang Pingping

Abstract excerpt

To enhance clinicians' understanding of Sifrim-Hitz-Weiss syndrome (SIHIWES), this study investigated the clinical phenotypes, genetic characteristics, and response to growth hormone therapy in a patient. A case of a patient with global developmental delay and distinctive facial features is presented. To identify the underlying etiology, peripheral blood samples were collected from the patient and both parents....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41680094
DOI: 10.1002/ajmg.a.70084

Genes

CHD4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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