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C10orf11 gene

Known as: OCA7, oculocutaneous albinism 7, autosomal recessive, CHROMOSOME 10 OPEN READING FRAME 11 
National Institutes of Health

Related topics

Related topics

2 relations
ALBINISM, OCULOCUTANEOUS, TYPE VIIC10orf12 gene

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting
Albinism is a rare genetic disease, comprising syndromic and non‐syndromic forms. We assessed clinical and genetic… 
2017
2017
De Novo 1.77-Mb Microdeletion of 10q22.2q22.3 in a Girl with Developmental Delay, Speech Delay, Congenital Cleft Palate, and Bilateral Hearing Impairment
Interstitial deletions of chromosome band 10q22.1q22.3 are rare. We here report a 2.5-year-old female patient with developmental… 
Review
2017
Review
2017
Category : Melanin Chemistry & Pigmentation ( MCP ) Title : Lessons of a day hospital : comprehensive assessment of patients with albinism in a European setting Running title : Prospective study of…
This article has been accepted for publication and undergone full peer review but has not been through the copyediting… 
Review
2014
Review
2014
Increasing the complexity: new genes and new types of albinism
Albinism is a rare genetic condition globally characterized by a number of specific deficits in the visual system, resulting in… 
Review
2014
Review
2014
Mutational Analysis of Oculocutaneous Albinism: A Compact Review
Oculocutaneous albinism (OCA) is an autosomal recessive disorder caused by either complete lack of or a reduction of melanin… 
2014
2014
Clinical utility gene card for: Oculocutaneous albinism
1.4 OMIM# of the gene(s) 606933 (TYR), protein: Tyrosinase. RefSeq: NG_008748.1. Transcript: NM_000372.4 611409 (OCA2), protein… 
Highly Cited
2013
Highly Cited
2013
Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism.
2010
2010
Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11
Interstitial deletions of chromosome band 10q22 are rare. We report on the characterization of three overlapping de novo 10q22… 
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