Co-existence of other copy number variations with 22q11.2 deletion or duplication: a modifier for variable phenotypes of the syndrome?
Mol Cytogenet., 5(1):18 (2012)
Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome.
Am. J. Med. Genet. A., Mar;158A(3):547-52 (2012)
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.
Am. J. Hum. Genet., Aug;89(2):289-94 (2011)
MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes.
Am. J. Hum. Genet., Nov;87(5):679-86 (2010)
A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss.
Am. J. Hum. Genet., May;86(5):797-804 (2010)
GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf.
Ann. Hum. Genet., Mar;74(2):155-64 (2010)