Document Details
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Document Type |
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Article In Journal |
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Document Title |
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Microcephaly‐capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing Microcephaly‐capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing |
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Document Language |
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English |
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Abstract |
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We describe two brothers from a consanguineous family of
Egyptian ancestry, presenting with microcephaly, apparent
global developmental delay, seizures, spasticity, congenital
blindness, and multiple cutaneous capillary malformations.
Through exome sequencing, we uncovered a homozygous missense
variant in STAMBP (p.K303R) in the two siblings, inherited
from heterozygous carrier parents. Mutations in STAMBP
are known to cause microcephaly-capillary malformation
syndrome (MIC-CAP) and the phenotype in this family is
consistent with this diagnosis. We compared the findings in
the present brothers with those of earlier reported patients.
2016 Wiley Periodicals, Inc. |
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ISSN |
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3018-3022 |
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Journal Name |
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American Journal of Medical Genetics Part A |
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Volume |
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170 |
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Issue Number |
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11 |
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Publishing Year |
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1437 AH
2016 AD |
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Article Type |
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Article |
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Added Date |
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Thursday, July 20, 2017 |
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Researchers
| Muhammad Imran Naseer | Naseer, Muhammad Imran | Researcher | Doctorate | |
| Sameera Sogaty | Sogaty, Sameera | Researcher | Doctorate | |
| Mahmood Rasool | Rasool, Mahmood | Researcher | Doctorate | |
| Adeel G. Chaudhary | Chaudhary, Adeel G. | Researcher | Doctorate | |
| Yousif Ahmed Abutalib | Abutalib, Yousif Ahmed | Researcher | Doctorate | |
| Susan Walker | Walker, Susan | Researcher | Doctorate | |
| Christian R. Marshall | Marshall, Christian R. | Researcher | Doctorate | |
| Daniele Merico | Merico, Daniele | Researcher | Doctorate | |
| Melissa T. Carter | Carter, Melissa T. | Researcher | Doctorate | |
| Stephen W. Scherer | Scherer, Stephen W. | Researcher | Doctorate | |
| Mohammad H. Al-Qahtani | Al-Qahtani, Mohammad H. | Researcher | Doctorate | |
| Mehdi Zarrei | Zarrei, Mehdi | Researcher | Doctorate | |
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