✦ LIBER ✦

Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome

✍ Scribed by Li, Xiang; Park, Woo-Jin; Pyeritz, Reed E.; Jabs, Ethylin Wang

Book ID: 109915407
Publisher: Nature Publishing Group
Year: 1995
Tongue: English
Weight: 351 KB
Volume: 9
Category: Article
ISSN: 1061-4036
DOI: 10.1038/ng0395-232

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A further mutation of the FGFR2 tyrosine

A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome

✍ de Ravel, Thomy J L; Taylor, Indira B; Van Oostveldt, Alex J T; Fryns, Jean-Pier 📂 Article 📅 2004 🏛 Nature Publishing Group 🌐 English ⚖ 130 KB

Novel mutation in the FGFR2 gene at the

Novel mutation in the FGFR2 gene at the same codon as the Crouzon syndrome mutations in a severe Pfeiffer syndrome type 2 case

✍ Schaefer, F.; Anderson, C.; Can, B.; Say, B. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 20 KB 👁 3 views

We have studied an infant with cloverleaf skull, proptosis, radioulnar synostosis and broad thumbs and great toes diagnosed as Pfeiffer syndrome type 2. However, there were many overlapping findings with Antley-Bixler syndrome. The patient was found to have a G to T mutation in codon 290 exon 7 of t

Germline and somatic mosaicism for FGFR2

Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in “paternal age-effect” syndromes

✍ Goriely, Anne (author);Lord, Helen (author);Lim, Jasmine (author);Johnson, David 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 281 KB 👁 2 views

Germline and somatic mosaicism for FGFR2

Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in “paternal age-effect” syndromes

✍ Goriely, Anne (author);Lord, Helen (author);Lim, Jasmine (author);Johnson, David 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 281 KB 👁 2 views

A novel silent mutation in the NSDHL gen

A novel silent mutation in the NSDHL gene causing CHILD syndrome as a result of aberrant splicing

✍ M. Saito; A. Ishiko 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 467 KB

FGFR2 gene mutation (Tyr375Cys) in a new

FGFR2 gene mutation (Tyr375Cys) in a new case of Beare-Stevenson syndrome

✍ Krepelov�, Anna; Baxov�, Alice; Calda, Pavel; Plavka, Richard; Kapras, Jan 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 14 KB 👁 2 views