000 01788 a2200505 4500
005 20250518083633.0
264 0 _c20210112
008 202101s 0 0 eng d
022 _a1552-4833
024 7 _a10.1002/ajmg.a.61506
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aAcosta-Fernández, Elizabeth
245 0 0 _aExtracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation.
_h[electronic resource]
260 _bAmerican journal of medical genetics. Part A
_c05 2020
300 _a1223-1229 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article
650 0 4 _aAgenesis of Corpus Callosum
_xdiagnostic imaging
650 0 4 _aChild
650 0 4 _aChild, Preschool
650 0 4 _aCraniofacial Abnormalities
_xdiagnostic imaging
650 0 4 _aEphrin-B1
_xgenetics
650 0 4 _aExons
_xgenetics
650 0 4 _aFemale
650 0 4 _aHernias, Diaphragmatic, Congenital
_xdiagnostic imaging
650 0 4 _aHeterozygote
650 0 4 _aHumans
650 0 4 _aInfant
650 0 4 _aMale
650 0 4 _aMutation
_xgenetics
650 0 4 _aSkull
_xdiagnostic imaging
700 1 _aZenteno, Juan C
700 1 _aChacón-Camacho, Oscar F
700 1 _aPeña-Padilla, Christian
700 1 _aBobadilla-Morales, Lucina
700 1 _aCorona-Rivera, Alfredo
700 1 _aRomo-Huerta, Carmen O
700 1 _aZepeda-Romero, Luz C
700 1 _aLópez-Marure, Eloy
700 1 _aAcosta-León, Jorge
700 1 _aGarcía-Cruz, Diana
700 1 _aMaciel-Cruz, Eric Jonathan
700 1 _aCorona-Rivera, Jorge Román
773 0 _tAmerican journal of medical genetics. Part A
_gvol. 182
_gno. 5
_gp. 1223-1229
856 4 0 _uhttps://doi.org/10.1002/ajmg.a.61506
_zAvailable from publisher's website
999 _c30600062
_d30600062