A novel mutation in CDK5RAP2 gene causes primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family

Uzma Abdullah, Muhammad Farooq, Yuan Mang, Syeda Marriam Bakhtiar, Ambrin Fatima, Lars Hansen, Klaus Wilbrandt Kjaer, Lars Allan Larsen, Sanam Faryal, Niels Tommerup, Shahid Mahmood Baig

3 Citationer (Scopus)

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Keyphrases

Neuroscience

Biochemistry, Genetics and Molecular Biology