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Items: 4

1.

Heterozygous deletion at 14q22.1-q22.3 including the BMP4 gene in a patient with psychomotor retardation, congenital corneal opacity and feet polysyndactyly.

Hayashi S, Okamoto N, Makita Y, Hata A, Imoto I, Inazawa J.

Am J Med Genet A. 2008 Nov 15;146A(22):2905-10. doi: 10.1002/ajmg.a.32519.

PMID:
18925664
2.

Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies.

Nolen LD, Amor D, Haywood A, St Heaps L, Willcock C, Mihelec M, Tam P, Billson F, Grigg J, Peters G, Jamieson RV.

Am J Med Genet A. 2006 Aug 15;140(16):1711-8.

PMID:
16835935
3.

Del(14)(q22.1q23.2) in a patient with anophthalmia and pituitary hypoplasia.

Lemyre E, Lemieux N, D├ęcarie JC, Lambert M.

Am J Med Genet. 1998 May 1;77(2):162-5. Review.

PMID:
9605291
4.

A case of deletion 14(q22.1-->q22.3) associated with anophthalmia and pituitary abnormalities.

Elliott J, Maltby EL, Reynolds B.

J Med Genet. 1993 Mar;30(3):251-2. Review.

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