Mutations inSPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome-Reference-Cited by-同舟云学术

Mutations inSPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome

Published:2014-11-20 Issue:2 Volume:52 Page:104-110
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

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

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference29 articles.

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2. The G and BBB syndromes: case presentations, genetics, and nosology;Funderburk;Am J Med Genet,1978

3. Male to male transmission of the G syndrome;Farndon;Clin Genet,1983

4. Male-to-male transmission of the hypertelorism-hypospadias (BBB) syndrome;Stoll;Am J Med Genet,1985

5. G syndrome: an unusual family;Allanson;Am J Med Genet,1988

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