Whole genome sequencing identifies a novel occludin mutation in microcephaly with band-like calcification and polymicrogyria that extends the phenotypic spectrum

Authors :: Mahmoud F. Elsaid
Nader Chalhoub
Hussein Kamel
Binu George
Joel A. Malek
Alice Abdel Aleem
Tawfeg Ben-Omran
Nahla N Abdel Aziz
Khalid Ibrahim
Eman K. Al-Dous
Yasmin A. Mohamoud
M. Elizabeth Ross
Source :: American Journal of Medical Genetics Part A. 164:1614-1617
Publication Year :: 2014
Publisher :: Wiley, 2014.

Subjects :: Genetics
Whole genome sequencing
Microcephaly
Mutation (genetic algorithm)
medicine
Polymicrogyria
Biology
medicine.disease
Occludin
Phenotype
Genetics (clinical)
Calcification

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