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Items: 16

1.
2.

Autosomal dominant inheritance of the Aarskog syndrome.

Grier RE, Farrington FH, Kendig R, Mamunes P.

Am J Med Genet. 1983 May;15(1):39-46. Review.

PMID:
6344635
3.

A child with sclerocornea, short limbs, short stature, and distinct facial appearance.

Thompson EM, Winter RM.

Am J Med Genet. 1988 Jul;30(3):719-24. Review.

PMID:
3055984
4.

KBG syndrome.

Brancati F, Sarkozy A, Dallapiccola B.

Orphanet J Rare Dis. 2006 Dec 12;1:50. Review.

5.

Costello syndrome: further clinical delineation, natural history, genetic definition, and nosology.

Zampino G, Mastroiacovo P, Ricci R, Zollino M, Segni G, Martini-Neri ME, Neri G.

Am J Med Genet. 1993 Aug 15;47(2):176-83. Review.

PMID:
8213903
6.

Two siblings with midline field defects and Hirschsprung disease: variable expression of Toriello-Carey or new syndrome?

Jespers A, Buntinx I, Melis K, Vaerenberg M, Janssens G.

Am J Med Genet. 1993 Aug 15;47(2):299-302. Review.

PMID:
8213924
7.

Kabuki syndrome in son and low grade mosaic 45,X/46,XX in mother.

Van Hagen JM, Kwee ML, Madan K, Nieuwint AW, Pals G, ten Kate LP.

Genet Couns. 1996;7(3):201-6. Review.

PMID:
8897041
8.

The KBG syndrome.

Smithson SF, Thompson EM, McKinnon AG, Smith IS, Winter RM.

Clin Dysmorphol. 2000 Apr;9(2):87-91. Review.

PMID:
10826617
9.

Cleft palate-lateral synechiae syndrome: report on three new patients with additional findings and evidence for variability and heterogeneity.

Nakata NM, Guion-Almeida ML, Richieri-Costa A.

Am J Med Genet. 1993 Sep 1;47(3):330-2. Review.

PMID:
8135276
10.

Desbuquois syndrome: three further cases and review of the literature.

Gillessen-Kaesbach G, Meinecke P, Ausems MG, Nöthen M, Albrecht B, Beemer FA, Zerres K.

Clin Dysmorphol. 1995 Apr;4(2):136-44. Review.

PMID:
7606320
11.

Juberg-Marsidi syndrome: report of an additional case.

Tsukahara M, Nasu T, Takihara H, Hattori Y, Nakane H, Kamata K, Mitsui H, Hayashida S.

Am J Med Genet. 1995 Sep 25;58(4):353-5. Review.

PMID:
8533845
12.

Hypertrichosis cubiti (hairy elbow syndrome): a clue to a malformation syndrome.

Polizzi A, Pavone P, Ciancio E, La Rosa C, Sorge G, Ruggieri M.

J Pediatr Endocrinol Metab. 2005 Oct;18(10):1019-25. Review.

PMID:
16355816
13.

The Robinow (fetal face) syndrome: a continuing puzzle.

Robinow M.

Clin Dysmorphol. 1993 Jul;2(3):189-98. Review.

PMID:
8287180
14.

[Clinical and genetic heterogeneity in Robinow's syndrome. Report of a new case and review of the literature I].

Oliván Gonzalvo G, Pérez González JM, Ventura Faci P, Olivares López JL, Bueno Sánchez M.

An Esp Pediatr. 1990 Jul;33(1):76-81. Review. Spanish. No abstract available.

PMID:
2252296
15.

RAPADILINO syndrome.

Vargas FR, de Almeida JC, Llerena Júnior JC, Reis DF.

Am J Med Genet. 1992 Dec 1;44(6):716-9. Review.

PMID:
1481838
16.

Achondrogenesis: a review with special consideration of achondrogenesis type II (Langer-Saldino).

Chen H, Liu CT, Yang SS.

Am J Med Genet. 1981;10(4):379-94. Review.

PMID:
7036745
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