Heterogeneity in Phenotype of Usher-Congenital Hyperinsulinism Syndrome: Hearing loss, retinitis pigmentosa, and hyperinsulinemic hypoglycemia ranging from severe to mild with conversion to diabetes

OBJECTIVE: To evaluate the phenotype of 15 children with congenital hyperinsulinism (CHI) and profound hearing loss, known as Homozygous 11p15-p14 Deletion syndrome (MIM #606528). RESEARCH DESIGN AND METHODS: Prospective clinical follow-up and genetic analysis by direct sequencing, multiplex ligatio...

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Détails bibliographiques
Auteurs principaux: Al Mutair, Angham N., Brusgaard, Klaus, Bin-Abbas, Bassam, Hussain, Khalid, Felimban, Naila, Al Shaikh, Adnan, Christesen, Henrik T.
Format: Artigo
Langue:Inglês
Publié: American Diabetes Association 2013
Sujets:
Original Research
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3579360/
https://ncbi.nlm.nih.gov/pubmed/23150283
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2337/dc12-1174
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