Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria (Q28270419)

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English	Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria	scientific article

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title

Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria (English)

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main subject

microcornea

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based on heuristic

inferred from title

author

Peter Nürnberg

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6

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Gudrun Nürnberg

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3

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Christina Zeitz

object named as

Christina Zeitz

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5

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author name string

Barbara Kloeckener-Gruissem

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1

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Kristof Vandekerckhove

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2

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John Neidhardt

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4

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Isaak Schipper

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7

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Wolfgang Berger

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8

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language of work or name

English

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publication date

March 2008

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published in

American Journal of Human Genetics

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volume

82

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issue

3

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page(s)

772-9

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cites work

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20 March 2017

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20 March 2017

A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD

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Genetic origins of cataract

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The genetics of childhood cataract

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29 September 2017

Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation.

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Identification and characterization of a novel RPGR isoform in human retina

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[Juvenile cataract associated with microcornea and glucosuria: a new syndrome]

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27 November 2018

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[Genetic examination in cases of congenital cataract]

1 reference

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reference URL

https://pubmed.ncbi.nlm.nih.gov/18304496

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic and environmental factors in age-related nuclear cataracts in monozygotic and dizygotic twins

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based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1016/J.AJHG.2007.12.013

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PMC publication ID

2427214

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PubMed publication ID

18304496

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ResearchGate publication ID

5548968

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