about
Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effectAno/microphthalmia, ocular cysts, central nervous system malformations, and neuropsychological delay. Diagnostic considerations on 2 Brazilian patients.Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.Oculoauriculovertebral spectrum: report of nine familial cases with evidence of autosomal dominant inheritance and review of the literature.Clinical findings in children with congenital anomalies and misoprostol intrauterine exposure: a study of 38 casesInterstitial 1q21.1 Microdeletion Is Associated with Severe Skeletal Anomalies, Dysmorphic Face and Moderate Intellectual Disability.Multisystem Involvement in a Patient with a PTCH1 Mutation: Clinical and Imaging Findings.Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.An unusual presentation of oculoauriculovertebral spectrum with a Tessier 30 cleft: report on two cases.Mandibulofacial dysostosis Bauru type: Refining the phenotype.Auriculo-condylar syndrome. Confronting a diagnostic challengeAnalysis of MLL2 gene in the first Brazilian family with Kabuki syndromeMandibulofacial syndrome with growth and mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: autosomal dominant or X-linked syndrome?
P50
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P50
name
Siulan Vendramini-Pittoli
@en
type
label
Siulan Vendramini-Pittoli
@en
prefLabel
Siulan Vendramini-Pittoli
@en