Open AccessNovel Homozygous TTI2 Variant Causing Autosomal Recessive Syndromic Intellectual Disability and Primary Microcephaly from Pakistan: A Case Report (Exome Report)
Author(s) -
Zul Qarnain,
Fatima Khan,
Fizza Akbar,
Salman Kirmani
Publication year - 2022
Publication title -
case reports in genetics
Language(s) - English
Resource type - Journals
eISSN - 2090-6552
pISSN - 2090-6544
DOI - 10.1155/2022/2766957
Subject(s) - microcephaly , intellectual disability , exome sequencing , short stature , genetics , facial dysmorphism , medicine , phenotype , loss function , psychomotor retardation , gene , biology , pediatrics , pathology , alternative medicine
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