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-Kozicz

Research output: Contribution to journalLetter

9 Citations (Scopus)
Original languageEnglish (US)
Pages (from-to)2331-2332
Number of pages2
JournalAmerican Journal of Medical Genetics, Part A
Volume155
Issue number9
DOIs
StatePublished - Sep 1 2011
Externally publishedYes

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Pyrroline Carboxylate Reductases
Multiple Abnormalities
Microcephaly
Spontaneous Fractures
Chromosomes, Human, Pair 17
Bone Fractures
Intellectual Disability
Phenotype
Mutation
Cutis Laxa, Autosomal Recessive, Type IIB

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

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.; Häberle, Johannes; Morava-Kozicz, Eva.

In: American Journal of Medical Genetics, Part A, Vol. 155, No. 9, 01.09.2011, p. 2331-2332.

Research output: Contribution to journalLetter

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AU - Wevers, Ron A.

AU - Häberle, Johannes

AU - Morava-Kozicz, Eva

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