Expanding the ocular phenotype of 14q terminal deletions: A novel presentation of microphthalmia and coloboma in ring 14 syndrome with associated 14q32.31 deletion and review of the literature.

Salter, Claire G; Baralle, Diana; Collinson, Morag N; Self, James E

Salter, Claire G; Baralle, Diana; Collinson, Morag N; Self, James E.

Afiliación

Salter CG; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom.
Baralle D; Human Development and Health, School of Medicine, University of Southampton, Southampton, United Kingdom.
Collinson MN; Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury District Hospital, Salisbury, Wiltshire, United Kingdom.
Self JE; Department of Ophthalmology, Southampton General Hospital, Southampton, United Kingdom.

Am J Med Genet A ; 170A(4): 1017-22, 2016 Apr.

Article en En | MEDLINE | ID: mdl-26773965

Asunto(s)

Deleción Cromosómica; Coloboma/diagnóstico; Coloboma/genética; Microftalmía/diagnóstico; Microftalmía/genética; Fenotipo; Cromosomas Humanos Par 14/genética; Hibridación Genómica Comparativa; Facies; Humanos; Hibridación Fluorescente in Situ; Cromosomas en Anillo

Palabras clave

14q terminal deletion syndrome; chromosomes; coloboma; human; microphthalamos; ophthalmology; pair 14; ring 14 syndrome; ring chromosomes

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fenotipo / Coloboma / Microftalmía / Deleción Cromosómica Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: Reino Unido

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