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Kallmann Syndrome Due to Heterozygous Mutation in SOX10 Coexisting With Waardenburg Syndrome Type II: Case Report and Review of Literature

INTRODUCTION: Kallmann syndrome (KS) is idiopathic hypogonadotropic hypogonadism with olfactory loss or decline. Waardenburg syndrome type II (WS2) is a clinically and genetically heterogeneous disease, characterized by congenital sensorineural deafness and abnormal pigmentation of the iris, hair, a...

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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Front Endocrinol (Lausanne)
Egile Nagusiak: Chen, Kan, Wang, Haoyu, Lai, Yaxin
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Frontiers Media S.A. 2021
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC7883637/
https://ncbi.nlm.nih.gov/pubmed/33597923
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fendo.2020.592831
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