Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases.

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Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases.

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2017 nî lūn-bûn

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2017年の論文

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2017年論文

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2017年論文

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2017年論文

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2017年論文

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2017年論文

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Quantification of transmission ...... n postzygotic mosaicism cases.

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Quantification of transmission ...... n postzygotic mosaicism cases.

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Quantification of transmission ...... n postzygotic mosaicism cases.

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P1476

Quantification of transmission ...... n postzygotic mosaicism cases.

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P2093

Amanda L Collins

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Andrew G L Douglas

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David Hunt

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Joanna Fairhurst

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Marie Bernkopf

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Tim Morgan

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P2860

Mutations in FLNB cause boomerang dysplasia

Somatic mosaicism: implications for disease and transmission genetics

Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity.

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients

Timing, rates and spectra of human germline mutation.

Mutations responsible for Larsen syndrome cluster in the FLNB protein.

Prenatal diagnosis of Larsen syndrome caused by a mutation in the filamin B gene

Case report: Congenital knee dislocation in a patient with larsen syndrome and a novel filamin B mutation.

Asymmetrical Larsen syndrome in a young girl: a second example of somatic mosaicism in this syndrome.

P304

1360-1364

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scholarly article

case report

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10.1002/HUMU.23281

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P433

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P478

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Stephen Robertson

Anne Goriely

Nils Koelling

P577

2017-06-21T00:00:00Z

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28639312

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5638069

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