Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy

J.M. (John) Graham Jr.; K Anyane0Yeboa; Anja Raams; E (Esther) Appeldoorn; W Kleijer; VH Garritsen; D Busch; TG Edersheim; Koos Jaspers

Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy

J.M. (John) Graham Jr., K Anyane0Yeboa, Anja Raams, E (Esther) Appeldoorn, W Kleijer, VH Garritsen, D Busch, TG Edersheim, Koos Jaspers

Molecular Genetics

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

101 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	291-300
Number of pages	10
Journal	American Journal of Human Genetics
Volume	69
Publication status	Published - 2001

Cite this

@article{e4d9f0afdfca4ee2998b134941b63c06,

title = "Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy",

author = "{Graham Jr.}, {J.M. (John)} and K Anyane0Yeboa and Anja Raams and Appeldoorn, {E (Esther)} and W Kleijer and VH Garritsen and D Busch and TG Edersheim and Koos Jaspers",

year = "2001",

language = "Undefined/Unknown",

volume = "69",

pages = "291--300",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

}

TY - JOUR

T1 - Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy

AU - Graham Jr., J.M. (John)

AU - Anyane0Yeboa, K

AU - Raams, Anja

AU - Appeldoorn, E (Esther)

AU - Kleijer, W

AU - Garritsen, VH

AU - Busch, D

AU - Edersheim, TG

AU - Jaspers, Koos

PY - 2001

Y1 - 2001

M3 - Article

SN - 0002-9297

VL - 69

SP - 291

EP - 300

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

ER -