𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A Japanese boy with Young-Simpson syndrome

✍ Scribed by TOSHIHIKO NAKAMURA; SEIJI NOMA

Book ID
108970563
Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
389 KB
Volume
39
Category
Article
ISSN
1328-8067

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Dystrophinopathy in a young boy with Kli
Dystrophinopathy in a young boy with Klinefelter's syndrome
✍ L. Santoro; L. Pastore; P. Gasparo Rippa; A.V.M. Orsini; E. Del Giudice; G. Vita πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 327 KB

We report the first case of a child with mild dystrophinopathy associated with Klinefelter's syndrome (karyotype 47, XXY). This 3.5-yearold boy was affected by some symptoms suggestive of Becker's muscular dystrophy. Dystrophin immunostaining and immunoblotting procedures confirmed the diagnosis, bu

A Weaver-like syndrome in a Japanese boy
A Weaver-like syndrome in a Japanese boy
✍ Masato Tsukahara; Suguru Tanaka; Tadashi Kajii πŸ“‚ Article πŸ“… 2008 πŸ› John Wiley and Sons 🌐 English βš– 465 KB
Young–Simpson syndrome (YSS), a variant
Young–Simpson syndrome (YSS), a variant of del(1)(p36) syndrome?
✍ Deanne Mraz Robinson; Cecilia C. Meagher; Craig C. Orlowski; Erin Caine Lagoe; C πŸ“‚ Article πŸ“… 2008 πŸ› John Wiley and Sons 🌐 English βš– 87 KB

## Abstract The Young–Simpson syndrome (YSS) and 1p36 deletion syndrome are both characterized by facial and heart abnormalities, congenital hypothyroidism, and severe growth and developmental retardation. However, the YSS is characterized by the presence of blepharophimosis and epicanthus inversus