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

✍ Scribed by Dorus Kouwenberg; Thatjana Gardeitchik; Ron A Wevers; Johannes Häberle; Eva Morava

• Publisher: John Wiley and Sons
• Year: 2011
• Tongue: English
• Weight: 61 KB
• Volume: 155
• Category: Article
• ISSN: 1552-4825
• DOI: 10.1002/ajmg.a.34154

✦ Synopsis

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.