Expanding the spectrum of phenotypes associated with germline PIGA mutations: A child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.

S.N. van der Crabben; M. Harakalova; E.H. Brilstra; F.M.C. van Berkestijn; F.C. Hofstede; A.J. van Vught; E. Cuppen; W.P. Kloosterman; H.K. Ploos van Amstel; G. van Haaften; M.M. van Haelst

doi:10.1002/ajmg.a.36184

Expanding the spectrum of phenotypes associated with germline PIGA mutations: A child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.

S.N. van der Crabben
, M. Harakalova
, E.H. Brilstra
, F.M.C. van Berkestijn
, F.C. Hofstede
, A.J. van Vught
, E. Cuppen
, W.P. Kloosterman
, H.K. Ploos van Amstel
, G. van Haaften
, M.M. van Haelst

Research output: Contribution to journal › Article › Academic › peer-review

Original language	English
Pages (from-to)	29-35
Number of pages	7
Journal	American Journal of Medical Genetics. Part A
Volume	164
Issue number	1
DOIs	https://doi.org/10.1002/ajmg.a.36184
Publication status	Published - 2014

Keywords

Econometric and Statistical Methods: General
Geneeskunde(GENK)
Medical sciences
Bescherming en bevordering van de menselijke gezondheid

Access to Document

10.1002/ajmg.a.36184

http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.36184/abstract;jsessionid=880876EDA8374A1054EAAF43153877AF.f01t02

Cite this

van der Crabben, S. N., Harakalova, M., Brilstra, E. H., van Berkestijn, F. M. C., Hofstede, F. C., van Vught, A. J., Cuppen, E., Kloosterman, W. P., Ploos van Amstel, H. K., van Haaften, G., & van Haelst, M. M. (2014). Expanding the spectrum of phenotypes associated with germline PIGA mutations: A child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities. American Journal of Medical Genetics. Part A, 164(1), 29-35. https://doi.org/10.1002/ajmg.a.36184

van der Crabben, S.N. ; Harakalova, M. ; Brilstra, E.H. et al. / Expanding the spectrum of phenotypes associated with germline PIGA mutations: A child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities. In: American Journal of Medical Genetics. Part A. 2014 ; Vol. 164, No. 1. pp. 29-35.

@article{f8448f14f00e4d08aef70776be75f777,

title = "Expanding the spectrum of phenotypes associated with germline PIGA mutations: A child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.",

keywords = "Econometric and Statistical Methods: General, Geneeskunde(GENK), Medical sciences, Bescherming en bevordering van de menselijke gezondheid",

author = "\{van der Crabben\}, S.N. and M. Harakalova and E.H. Brilstra and \{van Berkestijn\}, F.M.C. and F.C. Hofstede and \{van Vught\}, A.J. and E. Cuppen and W.P. Kloosterman and \{Ploos van Amstel\}, H.K. and \{van Haaften\}, G. and \{van Haelst\}, M.M.",

year = "2014",

doi = "10.1002/ajmg.a.36184",

language = "English",

volume = "164",

pages = "29--35",

journal = "American Journal of Medical Genetics. Part A",

issn = "1552-4825",

publisher = "John Wiley \& Sons Inc.",

number = "1",

}

van der Crabben, SN, Harakalova, M , Brilstra, EH , van Berkestijn, FMC , Hofstede, FC, van Vught, AJ, Cuppen, E, Kloosterman, WP, Ploos van Amstel, HK , van Haaften, G & van Haelst, MM 2014, 'Expanding the spectrum of phenotypes associated with germline PIGA mutations: A child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.', American Journal of Medical Genetics. Part A, vol. 164, no. 1, pp. 29-35. https://doi.org/10.1002/ajmg.a.36184

Expanding the spectrum of phenotypes associated with germline PIGA mutations: A child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities. / van der Crabben, S.N.; Harakalova, M.; Brilstra, E.H. et al.
In: American Journal of Medical Genetics. Part A, Vol. 164, No. 1, 2014, p. 29-35.

Research output: Contribution to journal › Article › Academic › peer-review

TY - JOUR

T1 - Expanding the spectrum of phenotypes associated with germline PIGA mutations: A child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.

AU - van der Crabben, S.N.

AU - Harakalova, M.

AU - Brilstra, E.H.

AU - van Berkestijn, F.M.C.

AU - Hofstede, F.C.

AU - van Vught, A.J.

AU - Cuppen, E.

AU - Kloosterman, W.P.

AU - Ploos van Amstel, H.K.

AU - van Haaften, G.

AU - van Haelst, M.M.

PY - 2014

Y1 - 2014

KW - Econometric and Statistical Methods: General

KW - Geneeskunde(GENK)

KW - Medical sciences

KW - Bescherming en bevordering van de menselijke gezondheid

U2 - 10.1002/ajmg.a.36184

DO - 10.1002/ajmg.a.36184

M3 - Article

C2 - 24259184

SN - 1552-4825

VL - 164

SP - 29

EP - 35

JO - American Journal of Medical Genetics. Part A

JF - American Journal of Medical Genetics. Part A

IS - 1

ER -

van der Crabben SN, Harakalova M , Brilstra EH , van Berkestijn FMC , Hofstede FC, van Vught AJ et al. Expanding the spectrum of phenotypes associated with germline PIGA mutations: A child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities. American Journal of Medical Genetics. Part A. 2014;164(1):29-35. doi: 10.1002/ajmg.a.36184