GLI3 is rarely implicated in OFD syndromes with midline abnormalities

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Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.New insights into genotype-phenotype correlation for GLI3 mutations.GLI3-related polydactyly: a review.

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GLI3 is rarely implicated in OFD syndromes with midline abnormalities

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http://www.wikidata.org/entity/Q57199591

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im September 2011 veröffentlichter wissenschaftlicher Artikel

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наукова стаття, опублікована у вересні 2011

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GLI3 is rarely implicated in OFD syndromes with midline abnormalities

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GLI3 is rarely implicated in OFD syndromes with midline abnormalities

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prefLabel

GLI3 is rarely implicated in OFD syndromes with midline abnormalities

@en

P1476

GLI3 is rarely implicated in OFD syndromes with midline abnormalities

@en

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A. Goldenberg

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A. Masurel-Paulet

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B. Aral

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C. Baumann

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C. Thauvin-Robinet

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E. Gautier

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E. Lopez

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F. Huet

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J. Thevenon

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L. Duplomb

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Mutation in GLI3 in postaxial polydactyly type A

Identification of the gene for oral-facial-digital type I syndrome

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.

The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.

Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing.

Point mutations in human GLI3 cause Greig syndrome.

GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families

GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome

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1332-1333

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scholarly article

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10.1002/HUMU.21570

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Valerie Cormier-Daire

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2011-09-19T00:00:00Z

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21796731

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GLI3 is rarely implicated in OFD syndromes with midline abnormalities

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P2860

P2860

GLI3 is rarely implicated in OFD syndromes with midline abnormalities

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P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698