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Quoted phrase not found in phrase index: "Auriculocondylar syndrome 4"
Page 1
Prenatal diagnosis of auriculocondylar syndrome with a novel missense variant of GNAI3: a case report.
Liu X, Sun W, Wang J, Chu G, He R, Zhang B, Zhao Y. Liu X, et al. BMC Pregnancy Childbirth. 2021 Nov 17;21(1):780. doi: 10.1186/s12884-021-04238-x. BMC Pregnancy Childbirth. 2021. PMID: 34789173 Free PMC article.
BACKGROUND: Auriculocondylar syndrome (ACS) is a rare disorder characterized by micrognathia, mandibular condyle hypoplasia, and auricular abnormalities. ...Severe micrognathia and mandibular hypoplasia were identified on ultrasonography. The mandibular length was 2 …
BACKGROUND: Auriculocondylar syndrome (ACS) is a rare disorder characterized by micrognathia, mandibular condyle hypoplasia, a …
Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.
Romanelli Tavares VL, Zechi-Ceide RM, Bertola DR, Gordon CT, Ferreira SG, Hsia GS, Yamamoto GL, Ezquina SA, Kokitsu-Nakata NM, Vendramini-Pittoli S, Freitas RS, Souza J, Raposo-Amaral CA, Zatz M, Amiel J, Guion-Almeida ML, Passos-Bueno MR. Romanelli Tavares VL, et al. Am J Med Genet A. 2017 Apr;173(4):938-945. doi: 10.1002/ajmg.a.38101. Am J Med Genet A. 2017. PMID: 28328130
In order to address these questions, we searched for alterations in PLCB4, GNAI3, and EDN1 in patients with typical Auriculocondylar syndrome (n = 3), Pierre Robin sequence-plus (n = 3), micrognathia with additional craniofacial malformations (n = 4), or non- …
In order to address these questions, we searched for alterations in PLCB4, GNAI3, and EDN1 in patients with typical Auriculocondylar …
Bilateral choanal stenosis in auriculocondylar syndrome caused by a PLCB4 variant.
Peart LS, Gonzalez J, Bivona S, Latchman K, Torres L; Undiagnosed Diagnosis Network; Tekin M. Peart LS, et al. Am J Med Genet A. 2022 Apr;188(4):1307-1310. doi: 10.1002/ajmg.a.62634. Epub 2022 Jan 7. Am J Med Genet A. 2022. PMID: 34995019
Auriculocondylar syndrome (ARCND) is characterized by a distinguished feature of question mark ears and a variation of other minor and major malformations. ...
Auriculocondylar syndrome (ARCND) is characterized by a distinguished feature of question mark ears and a variation of other m …
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. ...
Auriculocondylar syndrome is a rare craniofacial disorder comprising core features of micrognathia, condyle dysplasia and ques …
Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation.
Leoni C, Gordon CT, Della Marca G, Giorgio V, Onesimo R, Perrino F, Cianfoni A, Cerchiari A, Amiel J, Zampino G. Leoni C, et al. Am J Med Genet A. 2016 Jun;170(6):1471-8. doi: 10.1002/ajmg.a.37625. Epub 2016 Mar 23. Am J Med Genet A. 2016. PMID: 27007857
Auriculo-Condylar Syndrome (ACS) is a craniofacial malformation syndrome characterized by external ear anomalies, hypoplasia of the mandibular condyle, temporomandibular joint abnormalities, micrognathia, and microstomia. ...Both autosomal dominant and recess …
Auriculo-Condylar Syndrome (ACS) is a craniofacial malformation syndrome characterized by external ear anomalies, hypop …
Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutations.
Kido Y, Gordon CT, Sakazume S, Ben Bdira E, Dattani M, Wilson LC, Lyonnet S, Murakami N, Cunningham ML, Amiel J, Nagai T. Kido Y, et al. Am J Med Genet A. 2013 Sep;161A(9):2339-46. doi: 10.1002/ajmg.a.36066. Epub 2013 Aug 2. Am J Med Genet A. 2013. PMID: 23913798
Auriculocondylar syndrome (ACS) is a branchial arch syndrome typically inherited in an autosomal dominant fashion. Patients with ACS display the following core symptoms with varying severity: a specific malformation of the external ear, known as a "question mark ear …
Auriculocondylar syndrome (ACS) is a branchial arch syndrome typically inherited in an autosomal dominant fashion. Patients wi …
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. ...Studies in animal models have indicated the essential role of endothelin 1 (EDN1) signaling through the endothelin receptor …
Auriculocondylar syndrome (ACS) is a rare craniofacial disorder with mandibular hypoplasia and question-mark ears (QMEs) as ma …
A homozygous missense variant in the PLCB4 gene causes severe phenotype of auriculocondylar syndrome type 2.
El Fizazi K, Bouramtane A, Abbassi M, El Asri YA, Askander O, El Fahime M, Ouldim K, Ridal M, Bouguenouch L. El Fizazi K, et al. Am J Med Genet A. 2023 Nov;191(11):2673-2678. doi: 10.1002/ajmg.a.63375. Epub 2023 Aug 18. Am J Med Genet A. 2023. PMID: 37596802
Auriculocondylar syndrome (ARCND) is a rare craniofacial birth defect characterized by malformations in the mandible and external ear (Question Mark Ear). ...In this study, we report the first homozygous missense variant (NM_000933.4: c.2050G>A: p.(Gly684A …
Auriculocondylar syndrome (ARCND) is a rare craniofacial birth defect characterized by malformations in the mandible and exter …