A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes.

Thiffault, Isabelle; Saunders, Carol; Jenkins, Janda; Raje, Nikita; Canty, Kristi; Sharma, Mukta; Grote, Lauren; Welsh, Holly I; Farrow, Emily; Twist, Greyson; Miller, Neil; Zwick, David; Zellmer, Lee; Kingsmore, Stephen F; Safina, Nicole P

Thiffault, Isabelle; Saunders, Carol; Jenkins, Janda; Raje, Nikita; Canty, Kristi; Sharma, Mukta; Grote, Lauren; Welsh, Holly I; Farrow, Emily; Twist, Greyson; Miller, Neil; Zwick, David; Zellmer, Lee; Kingsmore, Stephen F; Safina, Nicole P.

Affiliation

Thiffault I; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO, 64108, USA. ithiffault@cmh.edu.
Saunders C; Department of Pathology and Laboratory Medicine, Childrens Mercy Hospitals, Kansas City, MO, 64108, USA. ithiffault@cmh.edu.
Jenkins J; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO, 64108, USA. csaunders@cmh.edu.
Raje N; Department of Pathology and Laboratory Medicine, Childrens Mercy Hospitals, Kansas City, MO, 64108, USA. csaunders@cmh.edu.
Canty K; University of Missouri, Kansas City School of Medicine, Kansas City, MO, USA. csaunders@cmh.edu.
Sharma M; Division of Clinical Genetics, Childrens Mercy Hospital, 2420 Pershing Road, Suite 421, Kansas City, MO, 64108, USA. jljenkins@cmh.edu.
Grote L; Department of Pediatrics, Children's Mercy Hospitals, Kansas City, MO, 64108, USA. jljenkins@cmh.edu.
Welsh HI; University of Missouri, Kansas City School of Medicine, Kansas City, MO, USA. jljenkins@cmh.edu.
Farrow E; Pediatric Allergy, Asthma and Immunology Clinic, Children's Mercy Hospitals, Kansas City, MO, 64108, USA. nraje@cmh.edu.
Twist G; Dermatology Clinic, Children's Mercy Hospitals, Kansas City, MO, 64108, USA. kmcanty@cmh.edu.
Miller N; Department of Hematology and Oncology, Children's Mercy Hospitals, Kansas City, MO, 64108, USA. msharma@cmh.edu.
Zwick D; Division of Clinical Genetics, Childrens Mercy Hospital, 2420 Pershing Road, Suite 421, Kansas City, MO, 64108, USA. lgrote@cmh.edu.
Zellmer L; Department of Pediatrics, Children's Mercy Hospitals, Kansas City, MO, 64108, USA. lgrote@cmh.edu.
Kingsmore SF; University of Missouri, Kansas City School of Medicine, Kansas City, MO, USA. lgrote@cmh.edu.
Safina NP; Division of Clinical Genetics, Childrens Mercy Hospital, 2420 Pershing Road, Suite 421, Kansas City, MO, 64108, USA. hwelsh@cmh.edu.

BMC Med Genet ; 16: 31, 2015 May 07.

Article de En | MEDLINE | ID: mdl-25948378

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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Instabilité des chromosomes / DNA polymerase II / Cassures de l'ADN Limites: Female / Humans / Infant / Newborn / Pregnancy Langue: En Journal: BMC Med Genet Sujet du journal: GENETICA MEDICA Année: 2015 Type de document: Article Pays d'affiliation: États-Unis d'Amérique Pays de publication: Royaume-Uni

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