- Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions
2007/10/01 by Pia Vuorela, Pia E. Vuorela, Sirpa Ala-Mello +12 · 40 citations
Medicine · #Anatomy #Atresia #Biology #CHARGE syndrome #Choanal atresia #Coloboma #Congenital Ear and Nasal Anomalies #Exon #Frameshift mutation #Gene #Genetics #Missense mutation #Multiplex ligation-dependent probe amplification #Mutation #Nonsense mutation #Salivary Gland Tumors Diagnosis and Treatment #Tracheal and airway disorders
- CHARGE syndrome: an update
2007/02/14 by Damien Sanlaville, Alain Verloès, Alain Verloes · 280 citations
Medicine · #Anatomy #Atresia #Biology #CHARGE syndrome #Charge (physics) #Choanal atresia #Coloboma #Congenital Ear and Nasal Anomalies #Gene #Genetic disorder #Genetic heterogeneity #Genetics #Head and Neck Surgical Oncology #Holoprosencephaly #Molecular genetics #Phenotype #Physics #Tracheal and airway disorders