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
| Autor: | Thatjana Gardeitchik, Eva Morava, Ron A. Wevers, Dorus Kouwenberg, Johannes Häberle |
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| Rok vydání: | 2011 |
| Předmět: |
Male
Genetics Microcephaly Psychomotor retardation Biology Neuroinformatics [DCN 3] Glycostation disorders [IGMD 4] medicine.disease Phenotype Genomic disorders and inherited multi-system disorders [IGMD 3] Type iib Intellectual Disability Mutation medicine Humans Abnormalities Multiple Female Pyrroline Carboxylate Reductases medicine.symptom Perception and Action Glycostation disorders [DCN 1] Genetics (clinical) Chromosomes Human Pair 17 Cutis laxa |
| Zdroj: | American Journal of Medical Genetics. Part A, 155A, 9, pp. 2331-2; author reply 2333-4 American Journal of Medical Genetics. Part A, 155A, 2331-2; author reply 2333-4 |
| ISSN: | 1552-4825 |
| Popis: | Contains fulltext : 97299.pdf (Publisher’s version ) (Closed access) |
| Databáze: | OpenAIRE |
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