Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature.

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A balanced reciprocal translocation t(10;15)(q22.3;q26.1) interrupting ACAN gene in a family with proportionate short stature.

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Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature.

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name

Genetic screening confirms het ...... e of idiopathic short stature.

@en

Genetic screening confirms het ...... e of idiopathic short stature.

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Item

label

Genetic screening confirms het ...... e of idiopathic short stature.

@en

Genetic screening confirms het ...... e of idiopathic short stature.

@nl

prefLabel

Genetic screening confirms het ...... e of idiopathic short stature.

@en

Genetic screening confirms het ...... e of idiopathic short stature.

@nl

P1476

Genetic screening confirms het ...... e of idiopathic short stature.

@en

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Anna-Maria Jung

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Antje Wiesener

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Christian Büttner

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Cornelia Kraus

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Dagmar Wieczorek

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Helmuth-Günther Dörr

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Jaqueline Kelkel

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Martin Zenker

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Nadine N Hauer

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Rami Abou Jamra

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s41598-017-12465-6

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scholarly article

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10.1038/S41598-017-12465-6

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English

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2017-09-22T00:00:00Z

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Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature.

about

P2860

P2860

Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P407

P433

P478

P50

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P407

P433

P478

P50

P577

P698

P932