000 01911 a2200589 4500
005 20250516103128.0
264 0 _c20121109
008 201211s 0 0 eng d
022 _a1552-4833
024 7 _a10.1002/ajmg.a.35446
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aAllanson, Judith
245 0 0 _aNablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype.
_h[electronic resource]
260 _bAmerican journal of medical genetics. Part A
_cSep 2012
300 _a2091-9 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 _aBlepharophimosis
_xgenetics
650 0 4 _aChild, Preschool
650 0 4 _aChromosome Deletion
650 0 4 _aChromosomes, Human, Pair 8
650 0 4 _aCraniofacial Abnormalities
_xgenetics
650 0 4 _aFemale
650 0 4 _aHumans
650 0 4 _aMale
650 0 4 _aPhenotype
700 1 _aSmith, Amanda
700 1 _aHare, Heather
700 1 _aAlbrecht, Beate
700 1 _aBijlsma, Emilia
700 1 _aDallapiccola, Bruno
700 1 _aDonti, Emilio
700 1 _aFitzpatrick, David
700 1 _aIsidor, Bertrand
700 1 _aLachlan, Katherine
700 1 _aLe Caignec, Cedric
700 1 _aProntera, Paolo
700 1 _aRaas-Rothschild, Annick
700 1 _aRogaia, Daniela
700 1 _avan Bon, Bregje
700 1 _aAradhya, Swaroop
700 1 _aCrocker, Susan F
700 1 _aJarinova, Olga
700 1 _aMcGowan-Jordan, Jean
700 1 _aBoycott, Kym
700 1 _aBulman, Dennis
700 1 _aFagerberg, Christina Ringmann
773 0 _tAmerican journal of medical genetics. Part A
_gvol. 158A
_gno. 9
_gp. 2091-9
856 4 0 _uhttps://doi.org/10.1002/ajmg.a.35446
_zAvailable from publisher's website
999 _c21966026
_d21966026