Novel PNPLA6 Variants: Hypogonadotropic Hypogonadism, Pituitary Hypoplasia, Anosmia, and Cerebellar Atrophy in Siblings.

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Bibliographic Details
Title: Novel PNPLA6 Variants: Hypogonadotropic Hypogonadism, Pituitary Hypoplasia, Anosmia, and Cerebellar Atrophy in Siblings.
Authors: Hussain, Mohammed Anwar1 (AUTHOR), Kumar, Varun1 (AUTHOR), Chapla, Aaron1 (AUTHOR), Thomas, Nihal2 (AUTHOR), Jebasingh, Felix K3 (AUTHOR)
Source: JCEM Case Reports. Jan2026, Vol. 4 Issue 1, p1-6. 6p.
Database: Academic Search Ultimate
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ISSN:27551520
DOI:10.1210/jcemcr/luaf286