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

Internet

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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