Ocular manifestations in a family with brachio-oculo-facial syndrome.

Branchio-Oto-Renal Syndrome / diagnosis Child Coloboma / diagnosis DNA / genetics DNA Mutational Analysis Diagnosis, Differential Female Humans Infant Male Mutation Optic Disk / pathology Transcription Factor AP-2 / genetics

Journal

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
ISSN: 1528-3933
Titre abrégé: J AAPOS
Pays: United States
ID NLM: 9710011

Informations de publication

Date de publication:
06 2019
Historique:
received: 24 10 2018
revised: 08 01 2019
accepted: 09 01 2019
pubmed: 2 3 2019
medline: 14 8 2020
entrez: 2 3 2019
Statut: ppublish

Résumé

We report 3 siblings with brachio-oculo-facial syndrome (BOFS) who present with the predominant ocular phenotype. This syndrome has rarely been reported in multiple first-degree relatives.

Identifiants

DOI: 10.1016/j.jaapos.2019.01.007 PMID: 30822509
pubmed: 30822509
pii: S1091-8531(19)30043-6
doi: 10.1016/j.jaapos.2019.01.007
pii:
doi:

Substances chimiques

TFAP2A protein, human 0
Transcription Factor AP-2 0
DNA 9007-49-2

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

180-182

Informations de copyright

Copyright © 2019 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

Auteurs

Rosanna Martens (R)

Bascom Palmer Eye Institute, Department of Ophthalmology, University of Miami Miller School of Medicine, Miami, Florida.

Linda A Cernichiaro Espinosa (LAC)

Bascom Palmer Eye Institute, Department of Ophthalmology, University of Miami Miller School of Medicine, Miami, Florida.

Supalert Prakhunhungsit (S)

Bascom Palmer Eye Institute, Department of Ophthalmology, University of Miami Miller School of Medicine, Miami, Florida; Ophthalmology Department, Faculty of Medicine, Siriraj Hospital, Mahidol University, Thailand.

Audina M Berrocal (AM)

Bascom Palmer Eye Institute, Department of Ophthalmology, University of Miami Miller School of Medicine, Miami, Florida. Electronic address: ABerrocal@med.miami.edu.

Articles similaires

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female

Evaluation of Low-Value Services Across Major Medicare Advantage Insurers and Traditional Medicare.

Ciara Duggan, Adam L Beckman, Ishani Ganguli et al.
1.00
Humans United States Aged Cross-Sectional Studies Medicare Part C

Effectiveness of Virtual Yoga for Chronic Low Back Pain: A Randomized Clinical Trial.

Hallie Tankha, Devyn Gaskins, Amanda Shallcross et al.
1.00
Humans Yoga Low Back Pain Female Male

Classifications MeSH

questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Maladies chromosomiques › Syndrome branchio-oto-rénal › Ocular manifestations in a family with...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Ocular manifestations in a family with...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations oculaires › Colobome › Ocular manifestations in a family with...
questionsmedicales.fr › Acides nucléiques, nucléotides et nucléosides › Acides nucléiques › ADN › Ocular manifestations in a family with...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Analyse de séquence d'ADN › Analyse de mutations d'ADN › Ocular manifestations in a family with...
questionsmedicales.fr › Diagnostic › Diagnostic différentiel › Ocular manifestations in a family with...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Ocular manifestations in a family with...
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Ocular manifestations in a family with...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Ocular manifestations in a family with...
questionsmedicales.fr › Organes des sens › Oeil › Rétine › Papille optique › Ocular manifestations in a family with...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › Facteur de transcription AP-2 › Ocular manifestations in a family with...