(Q48615123)

13 February 2018

title

Dominant coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate. (English)

1 reference

13 February 2018

sensorineural hearing loss

1 reference

1 reference

based on heuristic

inferred from title

author

Andrew Oliver Mungo Wilkie

5

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13 February 2018

author name string

Ravine D

1

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13 February 2018

Ragge NK

2

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13 February 2018

Stephens D

3

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13 February 2018

Oldridge M

4

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13 February 2018

publication date

1 October 1997

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13 February 2018

American Journal of Medical Genetics Part A

published in

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13 February 2018

volume

72

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13 February 2018

issue

2

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13 February 2018

page(s)

227-236

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13 February 2018

Papillo-renal syndrome. An inherited association of optic disc dysplasia and renal disease. Report and review of the literature

cites work

1 reference

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Waardenburg syndrome and myelomeningocele in a family

21 January 2018

1 reference

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Uveal colobomata and other anomalies in three generations of one family

21 January 2018

1 reference

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Genetics of classic Alport's syndrome

21 January 2018

1 reference

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Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly

21 January 2018

1 reference

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A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome

21 January 2018

1 reference

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Progressive sensorineural hearing loss in childhood.

21 January 2018

1 reference

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Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association

21 January 2018

1 reference

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Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation

21 January 2018

1 reference

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Short stature, mental retardation, eye anomalies, and cleft lip/palate.

21 January 2018

1 reference

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Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.

21 January 2018

1 reference

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Mutation of PAX2 in two siblings with renal-coloboma syndrome

21 January 2018

1 reference

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Pathologic features of the CHARGE association: support for involvement of the neural crest.

21 January 2018

1 reference

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Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences.

21 January 2018

1 reference

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Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene.

21 January 2018

1 reference

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Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

21 January 2018

1 reference

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Classification of microphthalmos and coloboma

21 January 2018

1 reference

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Coloboma and microphthalmos in chromosomal aberrations. Chromosomal aberrations and neural crest cell developmental field

21 January 2018

1 reference

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Upper limb defect associated with developmental delay, unilateral poorly developed antihelix, hearing deficit, and bilateral choroid coloboma: a new syndrome

21 January 2018

1 reference

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Optic nerve coloboma associated with renal disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971017%2972%3A2%3C227%3A%3AAID-AJMG19%3E3.0.CO%3B2-P

Unique phenotype associated with a pericentric inversion of chromosome 6 in three generations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971017%2972%3A2%3C227%3A%3AAID-AJMG19%3E3.0.CO%3B2-P

Atypical retinochoroidal coloboma in patients with dysplastic optic discs and transsphenoidal encephalocele

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971017%2972%3A2%3C227%3A%3AAID-AJMG19%3E3.0.CO%3B2-P

Deletion map of the coloboma (Cm) locus on mouse chromosome 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971017%2972%3A2%3C227%3A%3AAID-AJMG19%3E3.0.CO%3B2-P

10.1002/(SICI)1096-8628(19971017)72:2<227::AID-AJMG19>3.0.CO;2-P

21 January 2018

Identifiers

DOI

1 reference

13 February 2018

release_doeh72hhi5dhdecea32fyzmdrm

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/doeh72hhi5dhdecea32fyzmdrm

mapped directly with Wikidata item

24 November 2022

based on heuristic

PubMed ID

9382148

1 reference

13 February 2018