Article
Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.
BMC medical genetics - 25 Jun 2015
Rafiq Muhammad Arshad, Leblond Claire S, Saqib Muhammad Arif Nadeem, Vincent Akshita K, Ambalavanan Amirthagowri, Khan Falak Sher, Ayaz Muhammad, Shaheen Naseema, Spiegelman Dan, Ali Ghazanfar, Amin-ud-Din Muhammad, Laurent Sandra, Mahmood Huda, Christian Mehtab, Ali Nadir, Fennell Alanna, Nanjiani Zohair, Egger Gerald, Caron Chantal, Waqas Ahmed, Ayub Muhammad, Rasheed Saima, Forgeot d'Arc Baudouin, Johnson Amelie, So Joyce, Brohi Muhammad Qasim, Mottron Laurent, Ansar Muhammad, Vincent John B, Xiong Lan
Abstract excerpt
BACKGROUND: Cohen Syndrome (COH1) is a rare autosomal recessive disorder, principally identified by ocular, neural and muscular deficits. We identified three large consanguineous Pakistani families with intellectual disability and in some cases with autistic traits. METHODS: Clinical assessments were performed in order to allow comparison of clinical features with other VPS13B mutations. Homozygosity mapping...
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