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Quoted phrase not found in phrase index: "Auriculocondylar syndrome 3"
Page 1
Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.
J Med Genet. 2013 Mar;50(3):174-86. doi: 10.1136/jmedgenet-2012-101331. Epub 2013 Jan 12.
J Med Genet. 2013.
PMID: 23315542
BACKGROUND: Auriculocondylar syndrome (ACS) is a rare craniofacial disorder consisting of micrognathia, mandibular condyle hypoplasia and a specific malformation of the ear at the junction between the lobe and helix. Missense heterozygous mutations in the phospholip …
BACKGROUND: Auriculocondylar syndrome (ACS) is a rare craniofacial disorder consisting of micrognathia, mandibular condyle hyp …
Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect.
Romanelli Tavares VL, Gordon CT, Zechi-Ceide RM, Kokitsu-Nakata NM, Voisin N, Tan TY, Heggie AA, Vendramini-Pittoli S, Propst EJ, Papsin BC, Torres TT, Buermans H, Capelo LP, den Dunnen JT, Guion-Almeida ML, Lyonnet S, Amiel J, Passos-Bueno MR.
Romanelli Tavares VL, et al.
Eur J Hum Genet. 2015 Apr;23(4):481-5. doi: 10.1038/ejhg.2014.132. Epub 2014 Jul 16.
Eur J Hum Genet. 2015.
PMID: 25026904
Free PMC article.
Auriculocondylar syndrome is a rare craniofacial disorder comprising core features of micrognathia, condyle dysplasia and question mark ear. Causative variants have been identified in PLCB4, GNAI3 and EDN1, which are predicted to function within the EDN1-EDNR …
Auriculocondylar syndrome is a rare craniofacial disorder comprising core features of micrognathia, condyle dysplasia and ques …
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Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.
Gordon CT, Petit F, Kroisel PM, Jakobsen L, Zechi-Ceide RM, Oufadem M, Bole-Feysot C, Pruvost S, Masson C, Tores F, Hieu T, Nitschké P, Lindholm P, Pellerin P, Guion-Almeida ML, Kokitsu-Nakata NM, Vendramini-Pittoli S, Munnich A, Lyonnet S, Holder-Espinasse M, Amiel J.
Gordon CT, et al.
Am J Hum Genet. 2013 Dec 5;93(6):1118-25. doi: 10.1016/j.ajhg.2013.10.023. Epub 2013 Nov 21.
Am J Hum Genet. 2013.
PMID: 24268655
Free PMC article.
Auriculocondylar syndrome (ACS) is a rare craniofacial disorder with mandibular hypoplasia and question-mark ears (QMEs) as major features. ...Mutations in the genes coding for phospholipase C, beta 4 (PLCB4) and guanine nucleotide binding protein (G protein), alpha …
Auriculocondylar syndrome (ACS) is a rare craniofacial disorder with mandibular hypoplasia and question-mark ears (QMEs) as ma …
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