Open AccessClinical characterization of a new individual with mild SC4MOL deficiency: diagnostic and therapeutic implications
Author(s) -
J. Andres Morales,
Cynthia J. Curry,
Christina G. Tise,
Lisa E. Kratz,
Gregory M. Enns
Publication year - 2022
Publication title -
journal of translational genetics and genomics
Language(s) - English
Resource type - Journals
ISSN - 2578-5281
DOI - 10.20517/jtgg.2022.01
Subject(s) - exome sequencing , microcephaly , medicine , cataracts , compound heterozygosity , pediatrics , endocrinology , genetics , biology , mutation , gene , ophthalmology