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MeSH Review

Focal Dermal Hypoplasia

 
 
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Disease relevance of Focal Dermal Hypoplasia

 

High impact information on Focal Dermal Hypoplasia

 

Chemical compound and disease context of Focal Dermal Hypoplasia

 

Gene context of Focal Dermal Hypoplasia

  • Two Cape Coloured children, both with physical stigmata of Goltz syndrome, are described [9].

References

  1. Oculocerebrocutaneous syndrome: a case report, a follow-up, and differential diagnostic considerations. Moog, U., Krüger, G., Stengel, B., De Die-Smulders, C., Dykstra, S., Bleeker-Wagemakers, E. Genetic counseling (Geneva, Switzerland) (1996) [Pubmed]
  2. The radiological features of Goltz syndrome: focal dermal hypoplasia. A report of two cases. Boothroyd, A.E., Hall, C.M. Skeletal radiology. (1988) [Pubmed]
  3. Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing. Ryan, S.G., Chance, P.F., Zou, C.H., Spinner, N.B., Golden, J.A., Smietana, S. Nat. Genet. (1997) [Pubmed]
  4. Regional assignment of the loci for adenylate kinase to 9q32 and for alpha 1-acid glycoprotein to 9q31-q32. A locus for Goltz syndrome in region 9q32-qter? Zuffardi, O., Caiulo, A., Maraschio, P., Tupler, R., Bianchi, E., Amisano, P., Beluffi, G., Moratti, R., Liguri, G. Hum. Genet. (1989) [Pubmed]
  5. Focal dermal hypoplasia (Goltz syndrome): a decreased accumulation of hyaluronic acid in three-dimensional culture. Sato, M., Ishikawa, O., Yokoyama, Y., Kondo, A., Miyachi, Y. Acta Derm. Venereol. (1996) [Pubmed]
  6. Diaphragmatic hernia in a female newborn with focal dermal hypoplasia and marked asymmetric malformations (Goltz-Gorlin syndrome). Kunze, J., Heyne, K., Wiedemann, H.R. Eur. J. Pediatr. (1979) [Pubmed]
  7. New syndrome: focal dermal hypoplasia, morning glory anomaly, and polymicrogyria. Giampietro, P.F., Babu, D., Koehn, M.A., Jacobson, D.M., Mueller-Schrader, K.A., Moretti, C., Patten, S.F., Shaffer, L.G., Gorlin, R.J., Dobyns, W.B. Am. J. Med. Genet. A (2004) [Pubmed]
  8. Retinal detachment in focal dermal hypoplasia. Prenner, J.L., Ciaccia, S., Capone, A., Trese, M.T. European journal of ophthalmology. (2004) [Pubmed]
  9. Focal dermal hypoplasia (Goltz syndrome): case reports. Derks, B., Gericke, G.S., Louw, M. S. Afr. Med. J. (1978) [Pubmed]
 
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