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Article

Martsolf syndrome with novel mutation in the TBC1D20 gene in a family from Iran.

American journal of medical genetics. Part A - 1 May 2020

Hozhabri Hossein, Talebi Mehrdad, Mehrjardi Mohammad Y V, De Luca Alessandro, Dehghani Mohammadreza

Abstract excerpt

Warburg Micro syndrome and Martsolf syndrome are phenotypically overlapping autosomal recessive conditions characterized by multiple organ abnormalities involving the ocular, nervous, and endocrine systems. Warburg Micro syndrome, the more severe of the two conditions, is caused by loss of function mutations in RAB3GAP1, RAB3GAP2, RAB18, and TBC1D20 genes, whereas Martsolf syndrome has been attributed to less...

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PMID: 32162791
DOI: 10.1002/ajmg.a.61543

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