OTX2 Duplication Is Implicated in Hemifacial Microsomia
نویسندگان
چکیده
منابع مشابه
OTX2 Duplication Is Implicated in Hemifacial Microsomia
Hemifacial microsomia (HFM) is the second most common facial anomaly after cleft lip and palate. The phenotype is highly variable and most cases are sporadic. We investigated the disorder in a large pedigree with five affected individuals spanning eight meioses. Whole-exome sequencing results indicated the absence of a pathogenic coding point mutation. A genome-wide survey of segmental variatio...
متن کاملOTX2 Dosage Sensitivity is Implicated in Hemifacial Microsomia
+ Equal contribution * To whom correspondence should be addressed ([email protected]). CC-BY 4.0 International license peer-reviewed) is the author/funder. It is made available under a The copyright holder for this preprint (which was not. ABSTRACT Hemifacial microsomia (HFM) is the second most common facial anomaly after cleft lip and palate. The phenotype is highly variable and most cases are ...
متن کاملHemifacial microsomia.
Hemifacial microsomia (HFM) is a condition in which the lower half of one side of the face is underdeveloped and does not grow in a normal pattern. After clefts, this is the second most common facial birth defect. Etiology of HFM is unknown, but prenatal exposures of some drugs and genetic abnormalities may be associated with the condition. Diagnosis and treatment of HFM is challenging due to a...
متن کاملDental agenesis in hemifacial microsomia.
Hemifacial microsomia (HM) is an asymmetrical congenital deformity of the head and face caused by anomalous development of the structures derived from the first and second branchial arches. This study evaluates the incidence of agenesis and dental inclusions in HM patients. Sixty-three HM patients, 27 male and 36 female, ranging from 7 to 43 years had monolateral (61) and bilateral (2) presenta...
متن کاملNeurodevelopmental outcomes in children with hemifacial microsomia.
OBJECTIVE To determine whether preadolescent children with hemifacial microsomia (HFM) have higher risk of neurodevelopmental delays than unaffected control individuals. DESIGN Case-control follow-up study of neurodevelopment in children with and without HFM. SETTING Case individuals were originally recruited from 26 craniofacial centers across the United States and Canada, and controls wer...
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ژورنال
عنوان ژورنال: PLoS ONE
سال: 2014
ISSN: 1932-6203
DOI: 10.1371/journal.pone.0096788