Atypical phenotype of a patient with Bardet–Biedl syndrome type 4

Abstract Background Bardet–Biedl syndrome (BBS) is a multisystemic disorder characterized by rod–cone dystrophy, truncal obesity, postaxial polydactyly, cognitive impairment, male hypogonadotropic hypogonadism, complex female genitourinary malformations, and renal abnormalities. There is a large cli...

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Bibliografski detalji
Glavni autori: Natacha Sloboda, Laetitia Lambert, Viorica Ciorna, Ange‐Line Bruel, Frédéric Tran Mau‐Them, Vladimir Gomola, Jean‐Louis Lemelle, Olivier Klein, Marie‐Christine Camoin‐Schweitzer, Marie Magnavacca, Carole Legagneur, Marie‐Laure Ezsto, Céline Bonnet, Christophe Philippe, Bruno Leheup
Format: Artigo
Jezik:Inglês
Izdano: Wiley 2022-05-01
Serija:Molecular Genetics & Genomic Medicine
Teme:
anal imperforation
Bardet–Biedl syndrome
genital anomalies
sex assignment
Online pristup:https://doi.org/10.1002/mgg3.1869
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