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Article

Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights.

Clinical genetics - 1 Nov 2020

Abdel-Hamid Mohamed S, Abdel-Ghafar Sherif F, Ismail Suzan R, Desouky Lubna M, Issa Mahmoud Y, Effat Laila K, Zaki Maha S

Abstract excerpt

Micro and Martsolf syndromes are rare clinically and genetically overlapping disorders caused by mutations in RAB3GAP1, RAB3GAP2, RAB18 and TBC1D20 genes. We describe 34 new patients, 27 with Micro and seven with Martsolf. Patients presented with the characteristic clinical manifestations of the two syndromes, including postnatal microcephaly, congenital cataracts, microphthalmia, optic atrophy, spasticity and...

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PMID: 32740904
DOI: 10.1111/cge.13825

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