Kallmann syndrome in a patient with Weiss–Kruszka syndrome and a de novo deletion in 9q31.2

Patients with deletions on chromosome 9q31.2 may exhibit delayed puberty, craniofacial phenotype including cleft lip/palate, and olfactory bulb hypoplasia. We report a patient with congenital HH with anosmia (Kallmann syndrome, KS) and a de novo 2.38 Mb heterozygous deletion in 9q31.2. The deletion...

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Detalles Bibliográficos
Autores principales: Iivonen, Anna-Pauliina, Kärkinen, Juho, Yellapragada, Venkatram, Sidoroff, Virpi, Almusa, Henrikki, Vaaralahti, Kirsi, Raivio, Taneli
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2021
Materias:
Clinical Study
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8183635/
https://www.ncbi.nlm.nih.gov/pubmed/33909591
http://dx.doi.org/10.1530/EJE-20-1387

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8183635/
https://www.ncbi.nlm.nih.gov/pubmed/33909591
http://dx.doi.org/10.1530/EJE-20-1387

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