Two Chinese Xia‐Gibbs syndrome patients with partial growth hormone deficiency

BACKGROUND: Heterozygous mutations in the AT‐hook DNA‐binding motif containing one (AHDC1, OMIM * 615790) gene cause an autosomal dominant multisystem developmental disorder known as Xia‐Gibbs syndrome (OMIM #615829). Xia‐Gibbs syndrome typically presented with global developmental delay, hypotonia,...

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Dettagli Bibliografici
Pubblicato in:Mol Genet Genomic Med
Autori principali: Cheng, Xinran, Tang, Fang, Hu, Xuyun, Li, Hongduo, Li, Mengting, Fu, Yiyong, Yan, Li, Li, Zhonghui, Gou, Peng, Su, Na, Gong, Chunzhu, He, Weilan, Xiang, Rong, Bu, Dongmei, Shen, Yiping
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley and Sons Inc. 2019
Soggetti:
Clinical Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6465669/
https://ncbi.nlm.nih.gov/pubmed/30729726
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.596
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