Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview

Transmission of Barber–Say syndrome from a mosaic father to his child in an Indian family

(2016) Ankur Singh et al.   CLINICAL DYSMORPHOLOGY

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes

(2015) Shannon Marchegiani et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III)

(2015) David D. Weaver et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders

(2013) Denny Schanze et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Confirmation of the macroblepharon, ectropion, hypertelorism, and macrostomia syndrome

(2013) Jorge R. Corona-Rivera et al.   CLINICAL DYSMORPHOLOGY

Setleis Syndrome: Genetic and Clinical Findings in a New Case With Epilepsy

(2013) Lucio Giordano et al.   PEDIATRIC NEUROLOGY

Evidence for autosomal dominant inheritance of ablepharon-macrostomia syndrome

(2011) Luis Rohena et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Ablepharon-Macrostomia syndrome-Extension of the phenotype

(2011) Staci Kallish et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Setleis syndrome in Mexican-Nahua sibs due to a homozygous TWIST2 frameshift mutation and partial expression in heterozygotes: review of the focal facial dermal dysplasias and subtype reclassification

(2011) D. E. Cervantes-Barragan et al.   JOURNAL OF MEDICAL GENETICS

Homozygous Nonsense Mutations in TWIST2 Cause Setleis Syndrome

(2010) Turgut Tukel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Oral and dental abnormalities in Barber-Say syndrome

(2010) Fabiana Martins et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Barber-Say syndrome in a father and daughter

(2010) Nathalie Roche et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Ablepheron Macrostomia Syndrome

(2010) Gillian T. McCarthy et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder

(2009) Jennifer Haensel et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Psychological issues in oral and maxillofacial reconstructive surgery

(2008) Avinash De Sousa   BRITISH JOURNAL OF ORAL & MAXILLOFACIAL SURGERY