共 36 条
[1]
Segregation of a novel FBN1 gene mutation, G1796E, with kyphoscoliosis and radiographic evidence of vertebral dysplasia in three generations
[J].
AMERICAN JOURNAL OF MEDICAL GENETICS,
2002, 109 (04)
:261-270
[2]
DISTINCT SKELETAL ABNORMALITIES IN 4 GIRLS WITH SHPRINTZEN-GOLDBERG SYNDROME
[J].
AMERICAN JOURNAL OF MEDICAL GENETICS,
1995, 57 (04)
:565-572
[3]
ADES LC, 2005, 7 INT RES S MARF S G, P104
[5]
Biggin Andrew, 2004, Hum Mutat, V23, P99, DOI 10.1002/humu.9207
[6]
BURKE LW, 1995, 16 DS SMITH WORKSH M
[7]
Cohen M M Jr, 1988, Am J Med Genet Suppl, V4, P99
[8]
CRANIOSYNOSTOSIS IN AN INFANT WITH AN INTERSTITIAL DELETION OF 15Q [46,XY,DEL(15)(Q15Q22.1)]
[J].
AMERICAN JOURNAL OF MEDICAL GENETICS,
1990, 36 (02)
:209-213
[9]
NEW MARFANOID SYNDROME WITH CRANIOSYNOSTOSIS
[J].
AMERICAN JOURNAL OF MEDICAL GENETICS,
1987, 26 (03)
:599-604
[10]
Greally MT, 1998, AM J MED GENET, V76, P202, DOI 10.1002/(SICI)1096-8628(19980319)76:3<202::AID-AJMG2>3.0.CO