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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Udgivet i:Eur J Endocrinol
Main Authors: Iivonen, Anna-Pauliina, Kärkinen, Juho, Yellapragada, Venkatram, Sidoroff, Virpi, Almusa, Henrikki, Vaaralahti, Kirsi, Raivio, Taneli
Format: Artigo
Sprog:Inglês
Udgivet: Bioscientifica Ltd 2021
Fag:
Clinical Study
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8183635/
https://ncbi.nlm.nih.gov/pubmed/33909591
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EJE-20-1387
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