A case of novel mutation in ANOS1 (KAL1) gene and review of Kallmann syndrome

SUMMARY: Kallmann syndrome (KS) is a genetically heterogeneous condition characterized by hypogonadotropic hypogonadism with coexisting anosmia or hyposmia along with potential other phenotypic abnormalities depending on the specific genetic mutation involved. Several genetic mutations have been des...

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Detalles Bibliográficos
Autores principales: Arora, Sumeet, Yeliosof, Olga, Chin, Vivian L
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2023
Materias:
Insight into Disease Pathogenesis or Mechanism of Therapy
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10337840/
https://www.ncbi.nlm.nih.gov/pubmed/37294556
http://dx.doi.org/10.1530/EDM-22-0310

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10337840/
https://www.ncbi.nlm.nih.gov/pubmed/37294556
http://dx.doi.org/10.1530/EDM-22-0310

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