(Q84745182)

English

Recognizable phenotype with common occurrence of microcephaly, psychomotor retardation, but no spontaneous bone fractures in autosomal recessive cutis laxa type IIB due to PYCR1 mutations

scientific article published on 10 August 2011

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scholarly article

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21834030%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Recognizable phenotype with common occurrence of microcephaly, psychomotor retardation, but no spontaneous bone fractures in autosomal recessive cutis laxa type IIB due to PYCR1 mutations (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21834030%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

autosomal recessive cutis laxa type IIB

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based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

Johannes Häberle

4

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10 February 2020

author name string

Dorus Kouwenberg

1

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10 February 2020

Thatjana Gardeitchik

2

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10 February 2020

Ron A Wevers

3

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10 February 2020

Eva Morava

5

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10 February 2020

publication date

10 August 2011

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10 February 2020

American Journal of Medical Genetics

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10 February 2020

155A

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10 February 2020

9

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10 February 2020

2331-2; author reply 2333-4

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10 February 2020

Identifiers

10.1002/AJMG.A.34154

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10 February 2020

1 reference

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10 February 2020

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