000 01410 a2200421 4500
005 20250515031355.0
264 0 _c20060928
008 200609s 0 0 eng d
022 _a1552-4825
024 7 _a10.1002/ajmg.a.31316
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aMégarbané, André
245 0 0 _aA newly recognized autosomal recessive syndrome with short stature and oculo-skeletal involvement.
_h[electronic resource]
260 _bAmerican journal of medical genetics. Part A
_cJul 2006
300 _a1491-6 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article
650 0 4 _aAbnormalities, Multiple
_xgenetics
650 0 4 _aAdolescent
650 0 4 _aAdult
650 0 4 _aBone Diseases, Developmental
_xgenetics
650 0 4 _aBone and Bones
_xabnormalities
650 0 4 _aConsanguinity
650 0 4 _aEye Abnormalities
_xgenetics
650 0 4 _aFemale
650 0 4 _aGenes, Recessive
650 0 4 _aGrowth Disorders
_xgenetics
650 0 4 _aHumans
650 0 4 _aMale
650 0 4 _aPedigree
650 0 4 _aPhenotype
650 0 4 _aRetina
_xabnormalities
650 0 4 _aSyndrome
700 1 _aGhanem, Ismat
700 1 _aWaked, Naji
700 1 _aDagher, Fernand
773 0 _tAmerican journal of medical genetics. Part A
_gvol. 140
_gno. 14
_gp. 1491-6
856 4 0 _uhttps://doi.org/10.1002/ajmg.a.31316
_zAvailable from publisher's website
999 _c16365963
_d16365963