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.· Frontiers in Endocrinology· 0 citations
In this Saudi Arabian multicenter tertiary-referral cohort, CS predominantly affects women and is most frequently attributable to pituitary CS, and diagnostic delay remains prolonged despite advances in diagnosis and management.
Mussa H. Almalki, Abdullah AlAmri, Yara H. Musa et al.· Frontiers in Endocrinology· 0 citations
To the authors' knowledge, this is among the first prospectively evaluated AI systems for Arabic radiology report simplification, highlighting the potential of on-site AI deployment as a safe, privacy-preserving approach for multilingual radiology communication, warranting further investigation of its contribution to h...
Mohammad I. Alsayed, M. Alsayed, Akram Maghrabi et al.· International Journal of Med...· 0 citations
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.· Frontiers in Endocrinology· 0 citations
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