Article
Novel mutation in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II).
Metabolic brain disease - 19 Nov 2024
Gharehdaghi Elika Esmaeilzadeh, Smiley Elina, Zakeri Sina, Tale Ali, Klashami Zeynab Nickhah, Sedghi Maryam, Naghshband Zeinab, Amoli Mahsa M
Abstract excerpt
A rare type of autosomal recessive skeletal disorder, known as microcephalic osteodysplastic primordial dwarfism (MOPD) type II, causes a wide range of clinical abnormalities, including skeletal dysplasia, microcephaly, abnormal skin pigmentation, insulin resistance, typical facial features, and severe tooth deformities. Given the diverse manifestations of MOPD disorders and the overlapping clinical...
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