Biallelic Variants in

Child Coloboma / genetics Female Genetic Variation Humans Infant Kinesins / genetics Male Microphthalmos / genetics Pedigree
KIF17 MAC spectrum coloboma congenital eye defects microphthalmia

Journal

International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791

Informations de publication

Date de publication:
25 Apr 2021
Historique:
received: 04 04 2021
revised: 22 04 2021
accepted: 23 04 2021
entrez: 30 4 2021
pubmed: 1 5 2021
medline: 29 5 2021
Statut: epublish

Résumé

Microphthalmia, anophthalmia, and coloboma (MAC) are a group of congenital eye anomalies that can affect one or both eyes. Patients can present one or a combination of these ocular abnormalities in the so called "MAC spectrum". The

Identifiants

DOI: 10.3390/ijms22094471 PMID: 33922911 PMC: PMC8123208
pubmed: 33922911
pii: ijms22094471
doi: 10.3390/ijms22094471
pmc: PMC8123208
pii:
doi:

Substances chimiques

KIF17 protein, human 0
Kinesins EC 3.6.4.4

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Références

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Auteurs

Antonella Riva (A)

Unit of Medical Genetics, IRCCS Giannina Gaslini Institute, Via Gerolamo Gaslini 5, 16147 Genoa, Italy.
Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Via Gerolamo Gaslini 5, 16147 Genoa, Italy.
ORCID: 0000-0001-9152-5571

Antonella Gambadauro (A)

Department of Human Pathology in Adult and Developmental Age "Gaetano Barresi", Unit of Emergency Pediatric, University of Messina, Via Consolare Valeria 1, 98124 Messina, Italy.

Valeria Dipasquale (V)

Department of Human Pathology in Adult and Developmental Age "Gaetano Barresi", Unit of Emergency Pediatric, University of Messina, Via Consolare Valeria 1, 98124 Messina, Italy.

Celeste Casto (C)

Department of Human Pathology in Adult and Developmental Age "Gaetano Barresi", Unit of Emergency Pediatric, University of Messina, Via Consolare Valeria 1, 98124 Messina, Italy.

Maria Domenica Ceravolo (MD)

Department of Human Pathology in Adult and Developmental Age "Gaetano Barresi", Unit of Emergency Pediatric, University of Messina, Via Consolare Valeria 1, 98124 Messina, Italy.

Andrea Accogli (A)

Unit of Medical Genetics, IRCCS Giannina Gaslini Institute, Via Gerolamo Gaslini 5, 16147 Genoa, Italy.
Department of Paediatrics, Division of Medical Genetics, McGill University, Montreal, QC H3A 2R7, Canada.

Marcello Scala (M)

Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Via Gerolamo Gaslini 5, 16147 Genoa, Italy.
Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, Via Gerolamo Gaslini 5, 16147 Genoa, Italy.
ORCID: 0000-0003-2194-7239

Giorgia Ceravolo (G)

Department of Human Pathology in Adult and Developmental Age "Gaetano Barresi", Unit of Emergency Pediatric, University of Messina, Via Consolare Valeria 1, 98124 Messina, Italy.

Michele Iacomino (M)

Unit of Medical Genetics, IRCCS Giannina Gaslini Institute, Via Gerolamo Gaslini 5, 16147 Genoa, Italy.

Federico Zara (F)

Unit of Medical Genetics, IRCCS Giannina Gaslini Institute, Via Gerolamo Gaslini 5, 16147 Genoa, Italy.
Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Via Gerolamo Gaslini 5, 16147 Genoa, Italy.

Pasquale Striano (P)

Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Via Gerolamo Gaslini 5, 16147 Genoa, Italy.
Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, Via Gerolamo Gaslini 5, 16147 Genoa, Italy.
ORCID: 0000-0002-6065-1476

Caterina Cuppari (C)

Department of Human Pathology in Adult and Developmental Age "Gaetano Barresi", Unit of Emergency Pediatric, University of Messina, Via Consolare Valeria 1, 98124 Messina, Italy.

Gabriella Di Rosa (G)

Department of Human Pathology in Adult and Developmental Age "Gaetano Barresi", Division of Child Neurology and Psychiatry, University of Messina, Via Consolare Valeria 1, 98124 Messina, Italy.

Maria Concetta Cutrupi (MC)

Department of Human Pathology in Adult and Developmental Age "Gaetano Barresi", Unit of Emergency Pediatric, University of Messina, Via Consolare Valeria 1, 98124 Messina, Italy.

Vincenzo Salpietro (V)

Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Via Gerolamo Gaslini 5, 16147 Genoa, Italy.
Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, Via Gerolamo Gaslini 5, 16147 Genoa, Italy.
ORCID: 0000-0003-0132-7921

Roberto Chimenz (R)

Department of Human Pathology in Adult and Developmental Age "Gaetano Barresi, Unit of Pediatric Nephrology and Dialysis, University of Messina, Via Consolare Valeria 1, 98124 Messina, Italy.

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Classifications MeSH

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Recherchemedicale.com › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations oculaires › Microphtalmie › Biallelic Variants in
Recherchemedicale.com › Techniques d'investigation › Techniques génétiques › Pedigree › Biallelic Variants in