𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Distal arthrogryposis type IIB in a girl: Autosomal recessive inheritance?

✍ Scribed by Masato Tsukahara; Tadashi Kajii

Book ID
105333648
Publisher
Nature Publishing Group
Year
1984
Tongue
English
Weight
642 KB
Volume
29
Category
Article
ISSN
1435-232X

No coin nor oath required. For personal study only.

πŸ“œ 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 HΓ€berle; Eva Mora πŸ“‚ Article πŸ“… 2011 πŸ› John Wiley and Sons 🌐 English βš– 61 KB πŸ‘ 1 views

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.