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Response to Kouwenberg et al. “Recognizable Phenotype With Common Occurrence of Microcephaly, Psychomotor Retardation, But No Spontaneous Bone Fractures in ARCL2B Due to PYCR1 Mutations”

✍ Scribed by Beyhan Tüysüz; Aslıhan Tolun; Yeşerin Yıldırım

Publisher: John Wiley and Sons
Year: 2011
Tongue: English
Weight: 61 KB
Volume: 155
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.34151

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📜 SIMILAR VOLUMES

Recognizable phenotype with common occur

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 Mora 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 61 KB

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.