Associated Papers
Recurrence mutation in RBBP8 gene causing non-syndromic autosomal recessive primary microcephaly; geometric simulation approach for insight into predicted computational models.
Batool T et al.
Journal of Human Genetics, 2023
A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome.
Kaygusuz E et al.
Clinical Genetics, 2021
RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly.
Mumtaz S et al.
American Journal of Medical Genetics. Part A, 2015
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