GMLN
MIM.601749 1p22-p21
Pathology
mutations in familial glomuvenous malformations (MIM.138000)
References
Brouillard P, Ghassibe M, Penington A, Boon LM, Dompmartin A, Temple IK, Cordisco M, Adams D, Piette F, Harper JI, Syed S, Boralevi F, Taieb A, Danda S, Baselga E, Enjolras O, Mulliken JB, Vikkula M. Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effect. J Med Genet. 2005 Feb;42(2):e13. PMID: #15689436#
Brouillard P, Boon LM, Mulliken JB, Enjolras O, Ghassibe M, Warman ML, Tan OT, Olsen BR, Vikkula M. Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas"). Am J Hum Genet. 2002 Apr;70(4):866-74. PMID: #11845407#