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Results 1 - 10 of 22 for edwards syndrome
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  1. Trisomy 18 
    Trisomy 18, also called Edwards syndrome, is a chromosomal condition associated with abnormalities in many parts of the body. Individuals with trisomy 18 often have slow ...
    https://medlineplus.gov/genetics/condition/trisomy-18 - Genetics
  2. Oral-facial-digital syndrome 
    Oral-facial-digital syndrome is actually a group of related conditions that affect the development of the oral cavity (the mouth and teeth), facial features, ...
    https://medlineplus.gov/.../condition/oral-facial-digital-syndrome - Genetics
  3. SBDS gene 
    ... Greenblatt J, Hughes T, Arrowsmith CH, Rommens JM, Edwards AM. The Shwachman-Bodian-Diamond syndrome protein family is involved in RNA metabolism. J ...
    https://medlineplus.gov/genetics/gene/sbds - Genetics
  4. SLC52A3 gene 
    ... Lin JP, Raymond FL, Childs AM, Sheridan E, Edwards S, Josifova DJ. Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused ...
    https://medlineplus.gov/genetics/gene/slc52a3 - Genetics
  5. Riboflavin transporter deficiency neuronopathy 
    ... Lin JP, Raymond FL, Childs AM, Sheridan E, Edwards S, Josifova DJ. Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused ...
    https://medlineplus.gov/...lavin-transporter-deficiency-neuronopathy - Genetics
  6. Costello syndrome 
    ... Weksberg R, Cytrynbaum C, Reeder JL, Stewart FJ, Edwards M, Wilson M, Bankier A. The adult phenotype in Costello syndrome. Am J Med Genet A. 2005 Jul 15; ...
    https://medlineplus.gov/genetics/condition/costello-syndrome - Genetics
  7. Scalp-ear-nipple syndrome 
    ... Organization for Rare Disorders (NORD) SCALP-EAR-NIPPLE SYNDROME; SENS PubMed Marneros AG, Beck AE, Turner EH, McMillin MJ, Edwards MJ, Field M, de Macena Sobreira NL, Perez ...
    https://medlineplus.gov/genetics/condition/scalp-ear-nipple-syndrome - Genetics
  8. COL2A1 gene 
    ... or Free article on PubMed Central Donoso LA, Edwards AO, Frost AT, Ritter R 3rd, Ahmad N, Vrabec T, Rogers J, Meyer D, Parma S. Clinical variability of Stickler syndrome: role of exon 2 of the collagen COL2A1 ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  9. Kaufman oculocerebrofacial syndrome 
    ... National Organization for Rare Disorders (NORD) KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS PubMed Basel-Vanagaite L, Dallapiccola B, Ramirez-Solis R, Segref A, Thiele H, Edwards A, Arends MJ, Miro X, White JK, Desir ...
    https://medlineplus.gov/.../kaufman-oculocerebrofacial-syndrome - Genetics
  10. Gray platelet syndrome 
    ... Shalata A, Stanescu H, Manaster J, Arat M, Edwards H, Freiberg AS, Hart PS, ... T. Gray platelet syndrome: natural history of a large patient cohort and ...
    https://medlineplus.gov/genetics/condition/gray-platelet-syndrome - Genetics
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