✦ LIBER ✦

Recurrence of complex camptopolydactyly in a sibling suggestive of autosomal recessive mode of inheritance

✍ Scribed by Phadke, Shubha R. ;Agarwal, Savita ;Puri, Ratna Dua

Publisher: John Wiley and Sons
Year: 2002
Tongue: English
Weight: 93 KB
Volume: 116A
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.a.10086

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Identification of an autosomal recessive

Identification of an autosomal recessive mode of inheritance in paediatric Behçet's families by segregation analysis

✍ N. Molinari; I. Koné Paut; R. Manna; J. Demaille; J.P. Daures; I. Touitou 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 66 KB

## Abstract We have conducted a segregation analysis in order to characterise the transmission of Behçet Disease (BD), a multifactorial condition with a strong genetic component. Complete information about BD status and pedigree was obtained on 104 probands from our database. We used the criteria o

Partial distal aphalangia, duplication o

Partial distal aphalangia, duplication of metatarsal IV, microcephaly and borderline intelligence: A third patient suggesting autosomal recessive inheritance

✍ Gülen Eda Utine; Yasemin Alanay; Dilek Aktaş; Mehmet Alikaşifoğlu; Koray Boduroğ 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 76 KB 👁 1 views

Evidence suggesting the inheritance mode

Evidence suggesting the inheritance mode of the human P gene in skin complexion is not strictly recessive

✍ Pei-Wen Chiang; Elaine Spector; Anne Chun-Hui Tsai 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 144 KB 👁 1 views

Knobloch syndrome in a large Brazilian c

Knobloch syndrome in a large Brazilian consanguineous family: Confirmation of autosomal recessive inheritance

✍ Passos-Bueno, M. Rita ;Marie, Suely K. ;Monteiro, Mario ;Neustein, Isaac ;Whittl 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 382 KB 👁 3 views

Knobloch syndrome is a rare genetic disorder characterized by high myopia, vitreoretinal degeneration with retinal detachment and occipital cephalocele. The inheritance has been described as autosomal recessive (AR) but in addition to the original report with 5 affected patients [Knobloch and Layer,

The genotypic distribution of shared-epi

The genotypic distribution of shared-epitope DRB1 alleles suggests a recessive mode of inheritance of the rheumatoid arthritis disease-susceptibility gene

✍ Toni I. Evans; Jinfeng Han; Rovinder Singh; George Moxley 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 793 KB

Brown-Vialetto-Van Laere syndrome in a l

Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: Confirmation of autosomal recessive inheritance?

✍ M�garban�, A.; Desguerres, I.; Rizkallah, E.; Delague, V.; Nabbout, R.; Barois, 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 27 KB 👁 2 views

Brown-Vialetto-Van Laere syndrome or pontobulbar palsy with deafness is a rare disorder characterized by bilateral nerve deafness, a variety of cranial nerve disorders usually involving the motor components of the 7th and 9th to 12th cranial nerves, and less commonly an involvement of spinal motor n