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American Journal of Medical Genetics

Volumn 101, Issue 3, 2001, Pages 283-

Comment on traupe's tribute to rudolf happle [1]

(1) Sheffield, Leslie J a,b

a ROYAL CHILDREN'S HOSPITAL (Australia)

b UNIVERSITY OF MELBOURNE (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIFYING CHONDRODYSTROPHY; HUMAN; LETTER; NOMENCLATURE; PRIORITY JOURNAL; PUBLICATION; SEX CHROMOSOME MOSAICISM; SKIN MANIFESTATION; SYNDROME DELINEATION;

HISTORY, 20TH CENTURY; HUMANS; LINKAGE (GENETICS); MOSAICISM; SKIN DISEASES; SYNDROME; X CHROMOSOME;

EID: 0035399903 PISSN: 01487299 EISSN: None Source Type: Journal
DOI: 10.1002/1096-8628(20010701)101:3<283::AID-AJMG1335>3.0.CO;2-F Document Type: Letter

Times cited : (1)

References (8)

1
- 0032987971
- 7 isomerase cause X-linked dominant Conradi-Hünermann syndrome
- (1999) Nat Genet , vol.22 , pp. 291-294
- Braverman, N.¹ Lin, P.² Moebius, F.F.³ Obie, C.⁴ Moser, A.⁵ Glossman, H.⁶ Willcox, W.⁷ Rimoin, D.⁸ Smith, M.⁹ Kratz, L.¹⁰ Kelly, L.¹¹ Valle, D.¹²

2
- 0002978126
- Vorzeitiges auftreten von knochen und eigenartigen verkalkungskernen bei chondrodystrophia fötalis hypoplastica histologische und röntgenuntersuchungen
- (1914) Jb Kinderheilk , vol.80 , pp. 86-97
- Conradi, E.¹

3
- 0033037717
- 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata
- (1999) Nat Genet , vol.22 , pp. 286-290
- Derry, J.M.J.¹ Gormally, E.² Means, J.D.³ Zhao, W.⁴ Meindel, A.⁵ Kelley, R.I.⁶ Boyd, Y.⁷ Herman, G.E.⁸

4
- 0002230312
- Chondrodysplasia calcificans congeneita als abortive form der chondrodystrophie
- (1931) Z Kinderheilkd , vol.51 , pp. 1-19
- Hünermann, C.¹

5
- 0034641372
- The Conradi Hünermann-Happle syndrome (CDPX2) and emopamil binding protein: Novel mutations and somatic and gonadal mosaicism
- (2000) Hum Mol Genetics , vol.9 , pp. 1951-1955
- Has, C.¹ Bruckner-Tuderman, L.² Müller, D.³ Floeth, M.⁴ Folkers, E.⁵ Donnai, D.⁶ Traupe, H.⁷

6
- 0033950553
- Behold the CHILD[Editorial Comment]
- (2000) Am J Med Genet , vol.90 , pp. 336-338
- Opitz, J.M.¹

7
- 0004791231
- Heterogeneity of chondrodyplasia punctata
- (1971) Humangenetik , vol.1 , pp. 191-212
- Spranger, J.W.¹ Opitz, J.M.² Bidder, U.³

8
- 0032788145
- Functional X-chromosomal mosaicism of the skin: Rudolf Happle and the lines of Alfred Blaschko
- (1999) Am J Med Genet , vol.85 , pp. 324-329
- Traupe, H.¹

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