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Author

Allianah D. Benito

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Case report Open access Sep 2026

Case Report: Pallister-Hall syndrome diagnosed in adulthood during evaluation of recurrent hypoglycemia

Introduction Pallister-Hall syndrome (PHS) is a rare autosomal dominant disorder caused by pathogenic variants in GLI3 gene. It is characterized by variable combinations of hypothalamic hamartoma, polydactyly, bifid epiglottis, renal and genitourinary abnormalities, imperforate anus, and pituitary dysfunction. Most cas...

Noha N. Mukhtar, Montaha W. Demyati, Allianah D. Benito et al. · 0 citations
Case report Open access Aug 2026

Case Report: Three pathogenic molecular findings in a patient with myotonia congenita, pseudohypoparathyroidism, and a glaucoma-suspect phenotype

A patient with longstanding myotonia congenita due to a CLCN1 variant in whom an incidental discovery of severe hypocalcemia led to the diagnosis of GNAS-related pseudohypoparathyroidism (PHP), demonstrating two clinically expressed Mendelian disorders together with a third actionable molecular finding.

Noha N. Mukhtar, Deema Alturki, Allianah D. Benito et al. · 0 citations

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