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

Mahmoud F. Elsaid, Hussein Kamel, Nader Chalhoub, Nahla Abdel Aziz, Khalid Ibrahim, Tawfeg Ben-Omran, Binu George, Eman Aldous, Yasmin Ali Mohamoud, Joel Malek, M. Elizabeth Ross, Alice Kamal Abd El Aleem

Research output: Contribution to journalLetter

6 Citations (Scopus)
Original languageEnglish
Pages (from-to)1614-1617
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume164
Issue number6
DOIs
Publication statusPublished - 2014

Fingerprint

Occludin
Consanguinity
Malformations of Cortical Development
Calcinosis
Microcephaly
DNA Sequence Analysis
Genome
Phenotype
Mutation
Polymicrogyria

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Whole genome sequencing identifies a novel occludin mutation in microcephaly with band-like calcification and polymicrogyria that extends the phenotypic spectrum. / Elsaid, Mahmoud F.; Kamel, Hussein; Chalhoub, Nader; Aziz, Nahla Abdel; Ibrahim, Khalid; Ben-Omran, Tawfeg; George, Binu; Aldous, Eman; Ali Mohamoud, Yasmin; Malek, Joel; Ross, M. Elizabeth; Kamal Abd El Aleem, Alice.

In: American Journal of Medical Genetics, Part A, Vol. 164, No. 6, 2014, p. 1614-1617.

Research output: Contribution to journalLetter

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AU - Elsaid, Mahmoud F.

AU - Kamel, Hussein

AU - Chalhoub, Nader

AU - Aziz, Nahla Abdel

AU - Ibrahim, Khalid

AU - Ben-Omran, Tawfeg

AU - George, Binu

AU - Aldous, Eman

AU - Ali Mohamoud, Yasmin

AU - Malek, Joel

AU - Ross, M. Elizabeth

AU - Kamal Abd El Aleem, Alice

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JF - American Journal of Medical Genetics, Part A

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