𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Clinical and genetic linkage analysis of a large Venezuelan kindred with Usher syndrome

✍ Scribed by Ivan J Keogh; R.N Godinho; T.Po Wu; A.M.Diaz de Palacios; N Palacios; M.Bello de Alford; M.I.De Almada; N MarPalacios; A Vazquez; R Mattei; C Seidman; J Seidman; R.D Eavey

Book ID
116563664
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
97 KB
Volume
68
Category
Article
ISSN
0165-5876

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Clinical analysis of a large kindred wit
Clinical analysis of a large kindred with the Pallister ulnar-mammary syndrome
✍ Bamshad, Michael; Root, Susan; Carey, John C. πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 562 KB

The ulnar-mammary syndrome (UMS) is an autosomal dominant disorder characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia andor dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies. We present the clinical descriptions of 33 member

Christ-Siemens-Touraine syndromβ€”a clinic
Christ-Siemens-Touraine syndromβ€”a clinical and genetic analysis of a large Brazilian kindred: III. Carrier detection
✍ Pinheiro, M. ;Freire-Maia, N. ;Opitz, John M. πŸ“‚ Article πŸ“… 1979 πŸ› John Wiley and Sons 🌐 English βš– 317 KB πŸ‘ 2 views

Detection of carriers of the Christ-Siemens-Touraine syndrome on the basis of data of physical examination has been possible in about 60--70% of the cases reported in 44 papers, including a large Brazilian kindred studied by the authors. Partial data, however, showed detection values ranging from 42