Multiple Independent Gene Disorders Causing Bardet–Biedl Syndrome, Congenital Hypothyroidism, and Hearing Loss in a Single Indian Patient

Multiple Independent Gene Disorders Causing Bardet–Biedl Syndrome, Congenital Hypothyroidism, and Hearing Loss in a Single Indian Patient

We report a 20-year-old, female, adopted Indian patient with over 662 Mb regions of homozy-gosity who presented with intellectual disability, ataxia, schizophrenia, retinal dystrophy, moder-ate-to-severe progressive sensorineural hearing loss (SNHL), congenital hypothyroidism, cleft mi-tral valve wi...

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Bibliographic Details
Main Authors: Isabella Peixoto de Barcelos, Dong Li, Deborah Watson, Elizabeth M. McCormick, Lisa Elden, Thomas S. Aleman, Erin C. O’Neil, Marni J. Falk, Hakon Hakonarson
Format: Article
Language:English
Published: MDPI AG 2023-08-01
Series:Brain Sciences
Subjects:
<i>BBS6</i>
STR
<i>DUOX2</i>
<i>TNNT2</i>
consanguinity
Online Access:https://www.mdpi.com/2076-3425/13/8/1210

Internet

https://www.mdpi.com/2076-3425/13/8/1210

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