𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Ciliary ultrastructure in two sisters with Kartagener's syndrome

✍ Scribed by Kayoko Tanaka; Akihisa Sutani; Yuka Uchida; Yoshihiko Shimizu; Michio Shimizu; Masumi Akita


Book ID
106238984
Publisher
Springer
Year
2007
Tongue
English
Weight
823 KB
Volume
40
Category
Article
ISSN
0918-4287

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Perrault's syndrome in two sisters
✍ BΓΆsze, PΓ©ter ;Skripeczky, Katalin ;GaΕ›l, Magdolna ;TΓ³th, AndrΓ‘s ;LΓ‘szlΓ³, JΓ‘nos ; πŸ“‚ Article πŸ“… 1983 πŸ› John Wiley and Sons 🌐 English βš– 249 KB πŸ‘ 2 views

## Abstract We report on two sisters with Perrault's syndrome, i.e., autosomal recessive ovarian dysgenesis associated with sensorineural deafness. They were deaf‐mute and to normal height with a few minor somatic anomalies. Both had streak gonads and an apparently normal female 46,XX chromosome co

Two sisters with Escobar syndrome
✍ Spranger, Stephanie ;Spranger, Matthias ;Meinck, Hans-Michael ;Tariverdian, Ghol πŸ“‚ Article πŸ“… 1995 πŸ› John Wiley and Sons 🌐 English βš– 455 KB πŸ‘ 2 views

We report on 2 sisters with an autosomalrecessive multiple pterygium syndrome, type Escobar, consisting of multiple pterygia with severe contractures, short stature, and minor facial and external genital anomalies. The striking finding was severe muscular atrophy. We speculate that a neuromuscular d