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Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)

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AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Volume 143A, Issue 3, Pages 289-291

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WILEY-LISS

DOI: 10.1002/ajmg.a.31524

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Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement

Journal

AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Publisher

WILEY-LISS

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Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement

Journal

AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Publisher

WILEY-LISS

Keywords

Categories

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