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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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Detalles Bibliográficos
Autores principales:	Peixoto de Barcelos, Isabella, Li, Dong, Watson, Deborah, M. McCormick, Elizabeth, Elden, Lisa, Aleman, Thomas S., O’Neil, Erin C., J. Falk, Marni, Hakonarson, Hakon
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10452740/ https://www.ncbi.nlm.nih.gov/pubmed/37626566 http://dx.doi.org/10.3390/brainsci13081210

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