about
A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defectsHaploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephalyCellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopeciaNovel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effectA new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate.Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.Interstitial 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.EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome.Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene.Hydrocephalus and moderate mental retardation in a boy with Van der Woude phenotype and IRF6 gene mutation.Cerebro-oculo-nasal syndrome: 13 new Brazilian cases.Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.Holoprosencephaly spectrum, ano/microphthalmia, and first branchial arch defects: evidence for a new disorder.Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome.Mandibulofacial dysostosis Bauru type: Refining the phenotype.Occipital atretic cephalocele, striking facial anomalies, and large feet in three siblings of a consanguineous union.Complexity of the 5' Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development.Saethre-Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7Novel mutations inIRF6in nonsyndromic cleft lip with or without cleft palate: When shouldIRF6mutational screening be done?Auriculo-condylar syndrome: additional patientsAuriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneityClinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosisOral teratoma, dextrocardia, and congenital heart defect: a nonrandom association or serendipity?Auriculo-condylar syndrome. Confronting a diagnostic challengeRichieri-Costa-Pereira syndrome: a unique acrofacial dysostosis type. An overview of the Brazilian casesHoloprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genesFrontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletionLaryngeal malformation in Richieri-Costa Pereira syndrome: new findingsMandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: A new distinct form of mandibulofacial dysostosis or a severe form of Johnson-McMillin syndrome?Mandibulofacial 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
Roseli Maria Zechi-Ceide
@ast
Roseli Maria Zechi-Ceide
@en
Roseli Maria Zechi-Ceide
@es
Roseli Maria Zechi-Ceide
@fr
Roseli Maria Zechi-Ceide
@nl
type
label
Roseli Maria Zechi-Ceide
@ast
Roseli Maria Zechi-Ceide
@en
Roseli Maria Zechi-Ceide
@es
Roseli Maria Zechi-Ceide
@fr
Roseli Maria Zechi-Ceide
@nl
prefLabel
Roseli Maria Zechi-Ceide
@ast
Roseli Maria Zechi-Ceide
@en
Roseli Maria Zechi-Ceide
@es
Roseli Maria Zechi-Ceide
@fr
Roseli Maria Zechi-Ceide
@nl