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Microcephaly, Dysmorphic Features, Corneal Dystrophy, Hairy Nipples, Underdeveloped Labioscrotal Folds, and Small Cerebellum in Four Patients

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dc.contributor.authorKayserili, Hulya
dc.contributor.authorAltunoglu, Umut
dc.contributor.authorYesil, GÖZDE
dc.contributor.authorRosti, Rasim Ozgur
dc.contributor.institutionauthorYEŞİL, GÖZDE
dc.date.accessioned2019-10-05T21:41:00Z
dc.date.available2019-10-05T21:41:00Z
dc.date.issued2016-06-01
dc.description.abstractPontocerebellar hypoplasia (PCH) can occur as an isolated entity or part of a syndrome. PCH has been reported with facial dysmorphism, ocular anomalies, and genital anomalies, but the co-occurrence of all four has not been previously described. We report on four patients, born to two consanguineous families that are not related to one another, with distinctive facial features (short forehead, laterally extended, medially flared eyebrows), corneal dystrophy, underdevelopment of labioscrotal folds, and nonprogressive PCH. In addition, the patients show hair extruding from the lactiferous ducts, which to our knowledge has not been described before. The parental consanguinity, affected siblings of both genders, and absent manifestations in parents, indicate an autosomal recessive pattern of inheritance as most likely. (C) 2016 Wiley Periodicals, Inc.
dc.description.sponsorshipTürkiye Bilimsel Ve Teknolojik Araştırma Kurumu ( Tübitak )
dc.identifier
dc.identifier.citationKayserili H., Altunoglu U., Yesil G., Rosti R. O. , -Microcephaly, Dysmorphic Features, Corneal Dystrophy, Hairy Nipples, Underdeveloped Labioscrotal Folds, and Small Cerebellum in Four Patients-, AMERICAN JOURNAL OF MEDICAL GENETICS PART A, cilt.170, ss.1391-1399, 2016
dc.identifier.doi10.1002/ajmg.a.37652
dc.identifier.pubmed27075597
dc.identifier.scopus84963815773
dc.identifier.urihttps://hdl.handle.net/20.500.12645/7946
dc.identifier.wosWOS:000379946300003
dc.language.isoen
dc.titleMicrocephaly, Dysmorphic Features, Corneal Dystrophy, Hairy Nipples, Underdeveloped Labioscrotal Folds, and Small Cerebellum in Four Patients
dc.typeArticle
dspace.entity.typePublication
local.article.journalnamePHARMACY WORLD & SCIENCE
local.avesis.idc566d785-c342-4c2a-856c-00e7d8b73578
local.avesis.response7822
local.publication.isinternational1
relation.isAuthorOfPublicationb653abbc-327a-4b3b-a227-f3344d8d6b70
relation.isAuthorOfPublication.latestForDiscoveryb653abbc-327a-4b3b-a227-f3344d8d6b70
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