Marshall syndrome: further evidence of a distinct phenotypic entity and report of new findings.

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A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature A novel dominant COL11A1 mutation in a child with Stickler syndrome type II is associated with recurrent fractures.

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Marshall syndrome: further evidence of a distinct phenotypic entity and report of new findings.

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2014 nî lūn-bûn

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Marshall syndrome: further evi ...... ty and report of new findings.

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Marshall syndrome: further evi ...... ty and report of new findings.

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Marshall syndrome: further evi ...... ty and report of new findings.

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Marshall syndrome: further evi ...... ty and report of new findings.

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Marshall syndrome: further evi ...... ty and report of new findings.

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Marshall syndrome: further evi ...... ty and report of new findings.

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Marshall syndrome: further evi ...... ty and report of new findings.

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P2860

Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes

Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity

Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia

Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus

A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen

Marshall syndrome associated with a splicing defect at the COL11A1 locus.

Clinical features of type 2 Stickler syndrome

A simple salting out procedure for extracting DNA from human nucleated cells

A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies

The Marshall syndrome: report of a new family and review of the literature.

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2601-2606

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scholarly article

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10.1002/AJMG.A.36681

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English

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Marshall syndrome: further evidence of a distinct phenotypic entity and report of new findings.

about

P2860

P2860

Marshall syndrome: further evidence of a distinct phenotypic entity and report of new findings.

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