Expanding the Clinical Phenotype Associated with the NIN Gene; Report of a Patient with Short Stature, Microcephaly and Hearing Loss
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DOI: 10.34172/aim.33542
Abstract: To date, there are very few reports regarding patients with bi-allelic variants in the NIN gene. There is one report of two sisters with severe short stature, microcephaly, and developmental delay with compound heterozygote missense… read more here.
Keywords: short stature; report patient; hearing loss; nin gene ... See more keywords