✦ LIBER ✦

A premature infant with Costello syndrome due to a rare G13C HRAS mutation

✍ Scribed by Maria Piccione; Ettore Piro; Maria Grazia Pomponi; Federico Matina; Roberta Pietrobono; Eva Candela; Bruna Gabriele; Giovanni Neri; Giovanni Corsello

Publisher: John Wiley and Sons
Year: 2009
Tongue: English
Weight: 81 KB
Volume: 149A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.32674

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Male-to-male transmission of Costello sy

Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism

✍ Katia Sol-Church; Deborah L. Stabley; Laurie A. Demmer; Abigail Agbulos; Angela 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 348 KB 👁 1 views

Hypertrophic cardiomyopathy in a girl wi

Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A

✍ Giuseppe Limongelli; Silvia Russo; Maria Cristina Digilio; Maura Masciadri; Gius 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 149 KB 👁 2 views

Unexpected death due to refractory metab

Unexpected death due to refractory metabolic acidosis and massive hemolysis in a young infant with Prader–Willi syndrome

✍ F. Zaglia; M. Zaffanello; P. Biban 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 47 KB 👁 2 views

Two adult siblings with atypical cryopyr

Two adult siblings with atypical cryopyrin-associated periodic syndrome due to a novel M299V mutation in NLRP3

✍ Deepti Verma; Per Eriksson; Berolla Sahdo; Alexander Persson; Mikael Ejdebäck; E 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 150 KB

Donnai–Barrow syndrome (DBS/FOAR) in a c

Donnai–Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy

✍ Sibel Kantarci; Nicola K. Ragge; N. Simon Thomas; David O. Robinson; Kristin M. 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 225 KB

Response to local dihydrotestosterone tr

Response to local dihydrotestosterone treatment in a patient with partial androgen-insensitivity syndrome due to a novel mutation in the androgen receptor gene

✍ Foresta, Carlo ;Bettella, Andrea ;Ferlin, Alberto ;Garolla, Andrea ;Moro, Enrico 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 50 KB 👁 2 views