MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.
Gordon, Christopher T; Chopra, Maya; Oufadem, Myriam; Alibeu, Olivier; Bras, Marc; Boddaert, Nathalie; Bole-Feysot, Christine; Nitschké, Patrick; Abadie, Véronique; Lyonnet, Stanislas; Amiel, Jeanne.
Am J Med Genet A
; 176(1): 181-186, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-29159987
Underlying genetic diagnosis of Pierre Robin sequence: retrospective chart review at two children's hospitals and a systematic literature review.
Clinical, cytogenetic, and molecular outcomes in a series of 66 patients with Pierre Robin sequence and literature review: 22q11.2 deletion is less common than other chromosomal anomalies.
Pierre Robin Sequence: An Evidence-Based Treatment Proposal.
Expanding the spectrum of microdeletion 4q21 syndrome: a partial phenotype with incomplete deletion of the minimal critical region and a new association with cleft palate and Pierre Robin sequence.
Síndrome de hipoplasia femoral y facies inusual: reporte de un caso.
Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.
Robin Sequence: Continuing Heterogeneity in Nomenclature and Diagnosis.
Complex genomic rearrangement in the SOX9 5' region in a patient with Pierre Robin sequence and hypoplastic left scapula.
Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration.
Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence.