𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Clinical and molecular delineation of 16p13.3 duplication in a patient with congenital heart defect and multiple congenital anomalies

✍ Scribed by Jin-Lan Chen; Yi-Feng Yang; Can Huang; Jian Wang; Jin-Fu Yang; Zhi-Ping Tan

Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
411 KB
Volume
158A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Multiple congenital anomalies and develo
Multiple congenital anomalies and developmental delay in a boy associated with a de novo 16p13.3 deletion
✍ Marc Nelson; Shane Quinonez; Todd Ackley; Ram K. Iyer; Jeffrey W. Innis πŸ“‚ Article πŸ“… 2011 πŸ› John Wiley and Sons 🌐 English βš– 477 KB πŸ‘ 1 views

## Abstract We describe a patient with multiple congenital anomalies including tracheobronchomalacia, CT‐proven metopic craniosynostosis, glandular hypospadias and severe ventral chordee, torticollis, esotropia, strabismus, fifth finger clinodactyly, hallux valgus, and global developmental delay. U

Congenital hypoplastic anaemia in a pati
Congenital hypoplastic anaemia in a patient with a new multiple congenital anomalies-mental retardation syndrome
✍ Mori, Pier Giorgio; Priolo, Manuela; Lerone, Margherita; Pasino, Mirella; Caroli πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 16 KB πŸ‘ 2 views

We report on a girl with congenital hypoplastic anaemia, "coarse" face, generalized hypertrichosis with scalp hypotrichosis, short fifth finger, hypoplastic toenails, and mental retardation. A sister of the proposita, who died at the age of 1 year, had severe congenital anaemia, hypoplastic fingerna