Article
Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome.
Journal of medical genetics - 1 Feb 2015
Kruszka Paul, Li Dong, Harr Margaret H, Wilson Nathan R, Swarr Daniel, McCormick Elizabeth M, Chiavacci Rosetta M, Li Mindy, Martinez Ariel F, Hart Rachel A, McDonald-McGinn Donna M, Deardorff Matthew A, Falk Marni J, Allanson Judith E, Hudson Cindy, Johnson John P, Saadi Irfan, Hakonarson Hakon, Muenke Maximilian, Zackai Elaine H
Abstract excerpt
BACKGROUND: Opitz G/BBB syndrome is a heterogeneous disorder characterised by variable expression of midline defects including cleft lip and palate, hypertelorism, laryngealtracheoesophageal anomalies, congenital heart defects, and hypospadias. The X-linked form of the condition has been associated with mutations in the MID1 gene on Xp22. The autosomal dominant form has been linked to chromosome 22q11.2, although...
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