Compound heterozygous alterations in intraflagellar transport protein <i>CLUAP1</i> in a child with a novel Joubert and oral-facial-digital overlap syndrome.

Johnston, Jennifer J; Lee, Chanjae; Wentzensen, Ingrid M; Parisi, Melissa A; Crenshaw, Molly M; Sapp, Julie C; Gross, Jeffrey M; Wallingford, John B; Biesecker, Leslie G

Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome.

Johnston, Jennifer J; Lee, Chanjae; Wentzensen, Ingrid M; Parisi, Melissa A; Crenshaw, Molly M; Sapp, Julie C; Gross, Jeffrey M; Wallingford, John B; Biesecker, Leslie G.

Afiliación

Johnston JJ; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-4472, USA.
Lee C; Department of Molecular Biosciences, University of Texas at Austin, Austin, Texas 78705, USA.
Wentzensen IM; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-4472, USA.
Parisi MA; Intellectual and Developmental Disabilities Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA.
Crenshaw MM; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-4472, USA.
Sapp JC; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-4472, USA.
Gross JM; Departments of Ophthalmology and Developmental Biology, University of Pittsburgh, Pittsburgh, Pennsylvania 15260, USA.
Wallingford JB; Department of Molecular Biosciences, University of Texas at Austin, Austin, Texas 78705, USA.
Biesecker LG; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-4472, USA.

Cold Spring Harb Mol Case Stud ; 3(4)2017 07.

Article en En | MEDLINE | ID: mdl-28679688

Asunto(s)

Anomalías Múltiples/genética; Antígenos de Neoplasias/genética; Cerebelo/anomalías; Anomalías del Ojo/genética; Enfermedades Renales Quísticas/genética; Síndromes Orofaciodigitales/genética; Retina/anomalías; Adulto; Animales; Antígenos de Neoplasias/metabolismo; Proteínas Portadoras/genética; Niño; Anomalías Craneofaciales/genética; Exoma; Femenino; Flagelos/genética; Heterocigoto; Humanos; Masculino; Síndrome de Pallister-Hall/genética; Fenotipo; Polidactilia/genética; Secuenciación del Exoma; Xenopus/genética

Palabras clave

23 toe syndactyly; abnormality of the eyebrow; accessory oral frenulum; broad nasal tip; central hypotonia; cutaneous finger syndactyly; depressed nasal bridge; dysgenesis of the cerebellar vermis; high, narrow palate; hypertelorism; incomplete cleft of the upper lip; mixed hearing impairment; patent foramen ovale; postaxial hand polydactyly; preaxial foot polydactyly; prominent epicanthal folds; rhizomelic arm shortening; sparse scalp hair; thick anterior alveolar ridges; underdeveloped supraorbital ridges

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Síndromes Orofaciodigitales / Retina / Anomalías Múltiples / Cerebelo / Anomalías del Ojo / Enfermedades Renales Quísticas / Antígenos de Neoplasias Tipo de estudio: Prognostic_studies Límite: Adult / Animals / Child / Female / Humans / Male Idioma: En Revista: Cold Spring Harb Mol Case Stud Año: 2017 Tipo del documento: Article País de afiliación: Estados Unidos

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