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Disease: Branchial arch syndrome X-linked

  • A family with dominant oculoauriculovertebral spectrum
  • A new type of maxillofacial dysostosis, inherited as an X-linked or autosomal recessive trait
  • Branchial arch syndromes
  • Characterization of Bcor expression in mouse development
  • Description of a family with X-linked oculo-auriculo-vertebral spectrum associated with polyalanine tract expansion in ZIC3
  • 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?
  • Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate
  • New autosomal dominant branchio-oculo-facial syndrome
  • Symposium on sensorineural hearing loss in children: early detection and intervention. Genetic factors in deafness of early life
  • Unusual branchial arch, dermoepidermal and nervous system anomalies in a neonate with VACTERL-H syndrome
  • Use of Airwayscope with pediatric intlock in a patient with first and second branchial arch syndrome
  • VACTERL with hydrocephalus and branchial arch defects: prenatal, clinical, and autopsy findings in two brothers
  • X-linked syndrome of branchial arch and other defects
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CheckOrphan is a non-profit organization located in Basel, Switzerland and Santa Cruz, California that is dedicated to rare, orphan and neglected diseases. CheckOrphan offers users an interactive and dynamic platform for all these diseases. This strategy allows visitors to be updated daily on all the latest news and interact with people internationally. This is essential, because due to the nature of these diseases, there is not a large concentration of individuals within any given proximity.
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