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
Pfeiffer mutation in an apert patient: How wide is the spectrum of variability due to mutations in the FGFR2 gene?
✍ Scribed by Passos-Bueno, Maria Rita; Sertié, Andréa L.; Zatz, Mayana; Richieri-Costa, Antonio
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 14 KB
- Volume
- 71
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19970808)71:2<243::aid-ajmg27>3.0.co;2-d
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
The multiplex polymerase chain reactionallele specific oligonucleotides (PCR/ASO) dot blot hybridization method was used to detect 44 mitochondrial DNA point mutations in 2,000 patients suspected as having mitochondrial DNA disorders. These point mutations are classified into four categories. Catego
Human Xp22.2 has been proposed as a candidate region for the Rett syndrome (RTT) gene. M6b, a member of the proteolipid protein gene family, was mapped to Xp22.2 within one of the RTT candidate regions. In this article we describe the structure of the M6b gene, refine the physical mapping of M6b bet
Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder caused by mutations in the NF2 gene. Patients carrying NF2 mutations are predisposed to cerebral and spinal tumors with bilateral vestibular schwannomas as the hallmark. Using single strand conformation polymorphism and temperature gra
**A modern-day Flaubert takes us on a comic tour through a deeply neurotic Mexico City** **** Ramón Martinez is a militant atheist, successful lawyer, and conventional family man. But all of that changes when his privileged life disintegrates after cancer of the tongue deprives him of the source