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Novel Homozygous TTI2 Variant Causing Autosomal Recessive Syndromic Intellectual Disability and Primary Microcephaly from Pakistan: A Case Report (Exome Report)

We describe a male patient with a novel TTI2 variant, which has not been previously associated with a human phenotype. His features include intellectual disability, primary microcephaly, delayed psychomotor development, speech delay, short stature, dysmorphic facial features, esotropia, kyphoscolios...

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Detalles Bibliográficos
Autores principales:	Qarnain, Zul, Khan, Fatima, Akbar, Fizza, Kirmani, Salman
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9391182/ https://www.ncbi.nlm.nih.gov/pubmed/35990009 http://dx.doi.org/10.1155/2022/2766957

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