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

Dorus Kouwenberg; Thatjana Gardeitchik; Ron A. Wevers; Johannes Häberle; Eva Morava

doi:10.1002/ajmg.a.34154

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

Dorus Kouwenberg, Thatjana Gardeitchik, Ron A. Wevers, Johannes Häberle, Eva Morava

Medical Genetics

Research output: Contribution to journal › Letter › peer-review

9 Scopus citations

Original language	English (US)
Pages (from-to)	2331-2332
Number of pages	2
Journal	American Journal of Medical Genetics, Part A
Volume	155
Issue number	9
DOIs	https://doi.org/10.1002/ajmg.a.34154
State	Published - Sep 2011

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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Kouwenberg, D., Gardeitchik, T., Wevers, R. A., Häberle, J., & Morava, E. (2011). 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. American Journal of Medical Genetics, Part A, 155(9), 2331-2332. https://doi.org/10.1002/ajmg.a.34154

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. / Kouwenberg, Dorus; Gardeitchik, Thatjana; Wevers, Ron A. et al.
In: American Journal of Medical Genetics, Part A, Vol. 155, No. 9, 09.2011, p. 2331-2332.

Research output: Contribution to journal › Letter › peer-review

Kouwenberg, D, Gardeitchik, T, Wevers, RA, Häberle, J & Morava, E 2011, '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', American Journal of Medical Genetics, Part A, vol. 155, no. 9, pp. 2331-2332. https://doi.org/10.1002/ajmg.a.34154

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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

ASJC Scopus subject areas

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