✦ LIBER ✦

Report of a black South African child with oculodentodigital dysplasia and a novel GJA1 gene mutation

✍ Scribed by Liviu Feller; Neil H. Wood; Michelle D. Sluiter; Claudia Noffke; Erich J. Raubenheimer; Johan Lemmer; Elizabeth J. van Rensburg

Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 220 KB
Volume: 146A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.32272

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Multiple epiphyseal dysplasia, ribbing t

Multiple epiphyseal dysplasia, ribbing type: A novel point mutation in the COMP gene in a South African family

✍ Ballo, Robea; Briggs, Michael D.; Cohn, Daniel H.; Knowlton, Robert G.; Beighton 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 214 KB 👁 1 views

Multiple epiphyseal dysplasia is broadly categorised into the more severe Fairbank and the milder Ribbing types. In this paper we document mild MED in a South African kindred, and demonstrate that heterozygosity for a mutation in the cartilage oligomeric matrix protein (COMP) gene causes the conditi

Unusual presentation of a severe autosom

Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the EDAR gene

✍ Hala Mégarbané; Céline Cluzeau; Christine Bodemer; Sylvie Fraïtag; Myrna Chababi 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 179 KB 👁 2 views

## Abstract We report on an 18‐year‐old woman, born to first‐cousin parents, presenting with a severe form of anhydrotic ectodermal dysplasia (EDA/HED). She had sparse hair, absent limb hair, absent sweating, episodes of hyperpyrexia, important hypodontia, and hyperconvex nails. She also showed unu

Ballo R, Briggs MD, Cohn DH, Knowlton RG

Ballo R, Briggs MD, Cohn DH, Knowlton RG, Beighton PH, Ramesar RS (1997): Multiple epiphyseal dysplasia, ribbing type: A novel point mutation in the COMP gene in a South African family. Am J Med Genet 68:396-400.

✍ Arch, E. M.; Goodman, B. K.; Wesep, R.A. Van; Liaw, D.; Clarke, K.; Parsons, R.; 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 2 KB 👁 1 views

Unilateral focal polymicrogyria in a pat

Unilateral focal polymicrogyria in a patient with classical Aarskog–Scott syndrome due to a novel missense mutation in an evolutionary conserved RhoGEF domain of the faciogenital dysplasia gene FGD1

✍ Armand Bottani; Alfredo Orrico; Lucia Galli; Olivier Karam; Charles-André Haengg 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 224 KB 👁 2 views

Novel mutation in the gene encoding the

Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations

✍ Alba M. Hernández; Manuela Villamar; Lidia Roselló; Miguel A. Moreno-Pelayo; Fel 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 174 KB 👁 2 views

A new case of HDR syndrome with severe f

A new case of HDR syndrome with severe female genital tract malformation: Comment on “Novel Mutation in the Gene Encoding the GATA3 Transcription Factor in a Spanish Familial Case of Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) Syndrome With Female Genital Tract Malformations” by Hernández et al.

✍ Oana Moldovan; Raquel Carvalho; Zulmira Jorge; Ana Medeira 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 51 KB 👁 2 views