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Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome
Rieger syndrome (REG) is an autosomal–dominant human disorder that includes anomalies of the anterior chamber of the eye, dental hypoplasia and a protuberant umbilicus. We report the human cDNA andExpand
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Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome
The genetic basis of most conditions characterized by congenital contractures is largely unknown. Here we show that mutations in the embryonic myosin heavy chain (MYH3) gene cause Freeman-SheldonExpand
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The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2.
Objective. —Neurofibromatosis 1 and neurofibromatosis 2 are autosomal dominant genetic disorders in which affected individuals develop both benign and malignant tumors at an increased frequency.Expand
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Vestibular migraine: diagnostic criteria.
This paper presents diagnostic criteria for vestibular migraine, jointly formulated by the Committee for Classification of Vestibular Disorders of the Bárány Society and the Migraine ClassificationExpand
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Further Delineation of Deletion 1p36 Syndrome in 60 Patients: A Recognizable Phenotype and Common Cause of Developmental Delay and Mental Retardation
OBJECTIVES. Deletion 1p36 syndrome is a recently delineated disorder, considered to be the most common subtelomeric microdeletion syndrome (1 in 5000 newborns). 1p36.3 deletions account for 0.5% toExpand
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The spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndrome.
Ulnar-mammary syndrome (UMS) is a pleiotropic disorder affecting limb, apocrine-gland, tooth, hair, and genital development. Mutations that disrupt the DNA-binding domain of the T-box gene, TBX3,Expand
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Children and Adolescents with Neurofibromatosis 1: A Behavioral Phenotype
Twenty 6− to 17-year-old children with neurofibromatosis 1 (NF1) were compared to 20 age-and sex-matched siblings on a wide range of neuropsychological and behavioral dimensions. In familial cases,Expand
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Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics.
A Consensus Conference utilizing available literature and expert opinion sponsored by the American College of Medical Genetics in October 1995 evaluated the rational approach to the individual withExpand
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Xq28-linked noncompaction of the left ventricular myocardium: prenatal diagnosis and pathologic analysis of affected individuals.
Isolated noncompaction of the left ventricular myocardium (INVM) is characterized by the presence of numerous prominent trabeculations and deep intertrabecular recesses within the left ventricle,Expand
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Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes.
The distal arthrogryposes (DAs) are a group of disorders characterized by multiple congenital contractures of the limbs. We previously mapped a locus for DA type 2B (DA2B), the most common of theExpand
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