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Novel compound heterozygous variants in the LHX3 gene caused combined pituitary hormone deficiency: A case report

BACKGROUND: Combined pituitary hormone deficiency 3 (CPHD3; OMIM: 221750) is caused by mutations within the LHX3 gene (OMIM: 600577), which located on the subtelomeric region of chromosome 9 at band 9q34.3, has seven coding exons and six introns. LIM homeobox (LHX) 3 protein is the key regulator of...

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Detalles Bibliográficos
Autores principales:	Lin, Shuang-Zhu, Ma, Qi-Ji, Pang, Qi-Ming, Chen, Qian-Dui, Wang, Wan-Qi, Li, Jia-Yi, Zhang, Su-Li
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Baishideng Publishing Group Inc 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9649574/ https://www.ncbi.nlm.nih.gov/pubmed/36387827 http://dx.doi.org/10.12998/wjcc.v10.i31.11486

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