Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations

J. M. Drijvers; D. J. Lefeber; S. A. de Munnik; R. Pfundt; N. van de Leeuw; C. Marcelis; C. Thiel; C. Koerner; R. A. Wevers; E. Morava

doi:10.1111/j.1399-0004.2009.01349.x

Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations

J. M. Drijvers, D. J. Lefeber, S. A. de Munnik, R. Pfundt, N. van de Leeuw, C. Marcelis, C. Thiel, C. Koerner, R. A. Wevers, E. Morava

Medical Genetics

Research output: Contribution to journal › Letter › peer-review

10 Scopus citations

Original language	English (US)
Pages (from-to)	507-509
Number of pages	3
Journal	Clinical Genetics
Volume	77
Issue number	5
DOIs	https://doi.org/10.1111/j.1399-0004.2009.01349.x
State	Published - May 2010

ASJC Scopus subject areas

Genetics
Genetics(clinical)

Access to Document

10.1111/j.1399-0004.2009.01349.x

Cite this

@article{56b758bf3c1842debe8e48058d9c5e50,

title = "Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations",

author = "Drijvers, {J. M.} and Lefeber, {D. J.} and {de Munnik}, {S. A.} and R. Pfundt and {van de Leeuw}, N. and C. Marcelis and C. Thiel and C. Koerner and Wevers, {R. A.} and E. Morava",

year = "2010",

month = may,

doi = "10.1111/j.1399-0004.2009.01349.x",

language = "English (US)",

volume = "77",

pages = "507--509",

journal = "Clinical Genetics",

issn = "0009-9163",

publisher = "Wiley-Blackwell",

number = "5",

}

TY - JOUR

T1 - Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations

AU - Drijvers, J. M.

AU - Lefeber, D. J.

AU - de Munnik, S. A.

AU - Pfundt, R.

AU - van de Leeuw, N.

AU - Marcelis, C.

AU - Thiel, C.

AU - Koerner, C.

AU - Wevers, R. A.

AU - Morava, E.

PY - 2010/5

Y1 - 2010/5

UR - http://www.scopus.com/inward/record.url?scp=77953079541&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=77953079541&partnerID=8YFLogxK

U2 - 10.1111/j.1399-0004.2009.01349.x

DO - 10.1111/j.1399-0004.2009.01349.x

M3 - Letter

C2 - 20447155

AN - SCOPUS:77953079541

SN - 0009-9163

VL - 77

SP - 507

EP - 509

JO - Clinical Genetics

JF - Clinical Genetics

IS - 5

ER -

Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations

ASJC Scopus subject areas

Access to Document

Other files and links

Cite this