✦ LIBER ✦

Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes

✍ Scribed by Tomoki Kosho; Jun Takahashi; Takashige Momose; Akinori Nakamura; Akihiro Sakurai; Takahito Wada; Kunihiro Yoshida; Keiko Wakui; Takefumi Suzuki; Kazuo Kasuga; Gen Nishimura; Hiroyuki Kato; Yoshimitsu Fukushima

Publisher: John Wiley and Sons
Year: 2007
Tongue: English
Weight: 242 KB
Volume: 143A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.31983

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

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

Severe achondroplasia with developmental

Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): Phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3

✍ Bellus, Gary A.; Bamshad, Michael J.; Przylepa, Kelly A.; Dorst, John; Lee, Rola 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 87 KB 👁 2 views

We previously discovered a novel missense mutation (Lys650Met) in the tyrosine kinase domain of the fibroblast growth factor receptor 3 (FGFR3) gene in four unrelated individuals with a condition we called "severe achondroplasia with developmental delay and acanthosis nigricans" (SADDAN) [Tavormina

Boy with syndactylies, macrocephaly, and

Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: Not a new syndrome, but two dominant mutations (GLI3 E543X andCOL2A1 G973R) in the same individual

✍ Sobetzko, Diana; Eich, Georg; Kalff-Suske, Martha; Grzeschik, Karl-Heinz; Supert 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 26 KB 👁 3 views

An unusual combination of syndactylies, macrocephaly, and severe skeletal dysplasia was observed in a newborn infant. A history of digital anomalies in the father and grandfather lead to the diagnosis of dominantly inherited Greig cephalopolysyndactyly syndrome (GCPS, MIM #175700). Having explained

Molecular study of WISP3 in nine familie

Molecular study of WISP3 in nine families originating from the Middle-East and presenting with progressive pseudorheumatoid dysplasia: Identification of two novel mutations, and description of a founder effect

✍ Valérie Delague; Eliane Chouery; Sandra Corbani; Ismat Ghanem; Suhail Aamar; Jud 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 299 KB 👁 3 views

## Abstract Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive syndrome characterized by the presence of spondyloepiphyseal dysplasia associated with pain, stiffness, and swelling of multiple joints, osteoporosis, and the absence of destructive bone changes. The disorder is

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