Further delineation of the GDF6 related multiple synostoses syndrome.

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Further delineation of the GDF6 related multiple synostoses syndrome.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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Further delineation of the GDF6 related multiple synostoses syndrome.

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Further delineation of the GDF6 related multiple synostoses syndrome.

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Further delineation of the GDF6 related multiple synostoses syndrome.

@en

Further delineation of the GDF6 related multiple synostoses syndrome.

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Further delineation of the GDF6 related multiple synostoses syndrome.

@en

Further delineation of the GDF6 related multiple synostoses syndrome.

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P1476

Further delineation of the GDF6 related multiple synostoses syndrome

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P2093

Ans van den Ouweland

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Gijs van Haaften

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Lucienne Speleman

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Nienke E Verbeek

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Nine Knoers

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Ralph J Sakkers

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Rutger J A J Nievelstein

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P2860

Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis

Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies

New insights into the molecular mechanism of multiple synostoses syndrome (SYNS): mutation within the GDF5 knuckle epitope causes noggin-resistance

Analysis of protein-coding genetic variation in 60,706 humans

Structural basis of BMP signalling inhibition by the cystine knot protein Noggin

A New Subtype of Multiple Synostoses Syndrome Is Caused by a Mutation in GDF6 That Decreases Its Sensitivity to Noggin and Enhances Its Potency as a BMP Signal

Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome

Multiple joint and skeletal patterning defects caused by single and double mutations in the mouse Gdf6 and Gdf5 genes

Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome

Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes

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225-229

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scholarly article

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10.1002/AJMG.A.38503

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P407

English

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P478

176

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Paulien A Terhal

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2017-11-12T00:00:00Z

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P698

29130651

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