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Items: 7

1.

Progressive osseous heteroplasia, as an isolated entity or overlapping with Albright hereditary osteodystrophy.

Lin MH, Numbenjapon N, Germain-Lee EL, Pitukcheewanont P.

J Pediatr Endocrinol Metab. 2015 Jul;28(7-8):911-8. doi: 10.1515/jpem-2014-0435.

PMID:
25894639
2.

GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.

Lemos MC, Thakker RV.

Hum Mutat. 2015 Jan;36(1):11-9. doi: 10.1002/humu.22696. Epub 2014 Nov 28. Review.

3.

Identification of a novel mutation in a patient with pseudohypoparathyroidism type Ia.

Lee YS, Kim HK, Kim HR, Lee JY, Choi JW, Bae EJ, Oh PS, Park WI, Ki CS, Lee HJ.

Korean J Pediatr. 2014 May;57(5):240-4. doi: 10.3345/kjp.2014.57.5.240. Epub 2014 May 31.

4.

Three cases of osteoma cutis occurring in infancy. A brief overview of osteoma cutis and its association with pseudo-pseudohypoparathyroidism.

Ward S, Sugo E, Verge CF, Wargon O.

Australas J Dermatol. 2011 May;52(2):127-31. doi: 10.1111/j.1440-0960.2010.00722.x. Epub 2011 Jan 12.

PMID:
21605097
5.

Osteoma cutis as the presenting feature of albright hereditary osteodystrophy associated with pseudopseudohypoparathyroidism.

Jeong KH, Lew BL, Sim WY.

Ann Dermatol. 2009 May;21(2):154-8. doi: 10.5021/ad.2009.21.2.154. Epub 2009 May 31.

6.

A novel mutation causing pseudohypoparathyroidism 1A with congenital hypothyroidism and osteoma cutis.

Lubell T, Garzon M, Anyane Yeboa K, Shah B.

J Clin Res Pediatr Endocrinol. 2009;1(5):244-7. doi: 10.4274/jcrpe.v1i5.244. Epub 2009 Aug 6.

7.

Albright hereditary osteodystrophy with hypothyroidism, normocalcemia, and normal Gs protein activity: a family presenting with congenital osteoma cutis.

Izraeli S, Metzker A, Horev G, Karmi D, Merlob P, Farfel Z.

Am J Med Genet. 1992 Jul 1;43(4):764-7.

PMID:
1621772
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