Latest Research

  1. XY Female
  2. Syndactyly-polydactyly-ear Lobe …
  3. Nonsyndromic Hereditary Sensorineural …
  4. Congenital Unilateral Pulmonary …
  5. Congenital Herpes Simplex
  6. Tolosa-Hunt Syndrome
  7. Rokitansky Sequence
  8. Porokeratosis- Disseminated Superficial …
  9. Kaufman Oculocerebrofacial Syndrome
  10. Senior Loken Syndrome
  11. Amastia
  12. Syndactyly- Type 3

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Branchiootic syndrome

  1. GeneReviews™
  2. Branchiootic syndrome-a clinical case report and review of the literature.
  3. A novel nonsense mutation in the EYA1 gene associated with branchio-oto-renal/branchiootic syndrome in an Afrikaner kindred.
  4. Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement.