000 01266 a2200361 4500
005 20250516210500.0
264 0 _c20150331
008 201503s 0 0 eng d
022 _a1552-4833
024 7 _a10.1002/ajmg.a.36568
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aJones, Gabriela
245 0 0 _aSomatic mosaicism in ACVRL1 with transmission to several offspring affected with severe pulmonary arterial hypertension.
_h[electronic resource]
260 _bAmerican journal of medical genetics. Part A
_cAug 2014
300 _a2121-3 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article
650 0 4 _aActivin Receptors, Type II
_xgenetics
650 0 4 _aAdolescent
650 0 4 _aFatal Outcome
650 0 4 _aFemale
650 0 4 _aHumans
650 0 4 _aHypertension, Pulmonary
_xdiagnosis
650 0 4 _aMosaicism
650 0 4 _aMutation
650 0 4 _aSeverity of Illness Index
650 0 4 _aYoung Adult
700 1 _aRobertson, Lisa
700 1 _aHarrison, Rachel
700 1 _aRidout, Cheryl
700 1 _aVasudevan, Pradeep
773 0 _tAmerican journal of medical genetics. Part A
_gvol. 164A
_gno. 8
_gp. 2121-3
856 4 0 _uhttps://doi.org/10.1002/ajmg.a.36568
_zAvailable from publisher's website
999 _c23757264
_d23757264