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Items: 11

1.

Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region.

Brunetti-Pierri N, Lachman R, Lee K, Leal SM, Piccolo P, Van Den Veyver IB, Bacino CA.

Am J Med Genet A. 2010 Jul;152A(7):1825-31. doi: 10.1002/ajmg.a.33470.

2.

Otopalatodigital Spectrum Disorders.

Robertson S.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2005 Nov 30 [updated 2013 May 2].

3.

Adams-Oliver syndrome revisited.

Whitley CB, Gorlin RJ.

Am J Med Genet. 1991 Sep 1;40(3):319-26. Review.

PMID:
1951437
4.

The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

Pediatrics. 2004 May;113(5):e472-86. Review.

PMID:
15121991
5.

The pattern of shortened hand and foot bones in D- and E-brachydactyly and pseudohypoparathyroidism/pseudopseudohypoparathyroidism.

Graudal N, Galløe A, Christensen H, Olesen K.

Rofo. 1988 Apr;148(4):460-2. Review. No abstract available.

PMID:
2834801
6.

Central ray deficiency with extensive syndactyly: a dilemma for classification.

Elliott AM, Reed MH, Evans JA.

Genet Couns. 2009;20(1):27-43. Review.

PMID:
19400540
7.

[Idiopathic multicentric osteolysis and the delimitation of the cranio-carpal-tarsal-osteolysis syndrome].

Fuchs GA.

Z Orthop Ihre Grenzgeb. 1991 Nov-Dec;129(6):542-8. Review. German.

PMID:
1837405
8.

Cerebral defects confirm midline developmental field disturbances in supernumerary der(22), t(11;22) syndrome.

Pallotta R, Fusilli P, Ehresmann T, Cinti R, Verrotti A, Morgese G.

Clin Genet. 1996 Nov;50(5):411-6. Review.

PMID:
9007334
9.

Greig cephalopolysyndactyly syndrome in a large family: a comparison of the clinical signs with those described in the literature.

Ausems MG, Ippel PF, Renardel de Lavalette PA.

Clin Dysmorphol. 1994 Jan;3(1):21-30. Review.

PMID:
8205322
10.

Otospondylomegaepiphyseal dysplasia: report of three sibs and review of the literature.

al Gazali LI, Lytle W.

Clin Dysmorphol. 1994 Jan;3(1):46-54. Review.

PMID:
8205326
11.

Long-term follow-up in Stuve-Wiedemann syndrome: a clinical report.

Gaspar IM, Saldanha T, Cabral P, Vilhena MM, Tuna M, Costa C, Dagoneau N, Daire VC, Hennekam RC.

Am J Med Genet A. 2008 Jul 1;146A(13):1748-53. doi: 10.1002/ajmg.a.32325. Review.

PMID:
18546280

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