Novel Mutation in Patients with Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPD II)

Elika Esmaeilzadeh Gharehdaghi, Elina Smiley, Sina Zakeri, Ali Tale,Zeynab Nickhah Klashami,Maryam Sedghi, Zeinab Naghshband,Mahsa M. Amoli

METABOLIC BRAIN DISEASE（2024）

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Key words

Microcephalic osteodysplastic primordial dwarfism type II,PCNT gene,Homozygous copy number,Whole-exome sequencing,Sanger sequencing,GAP-PCR

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