Familial 6p22.2 Duplication Associates With Mild Developmental Delay and Increased SSADH Activity

Linda Forsström (Siggberg); Aki Mustonen; Robert Schuit; Gajja S. Salomons; Birthe Roos; K. Michael Gibson; Cornelis Jakobs; Jaakko Ignatius; Sakari Knuutila

doi:10.1002/ajmg.b.31180

Familial 6p22.2 Duplication Associates With Mild Developmental Delay and Increased SSADH Activity

Linda Forsström (Siggberg), Aki Mustonen, Robert Schuit, Gajja S. Salomons, Birthe Roos, K. Michael Gibson, Cornelis Jakobs, Jaakko Ignatius, Sakari Knuutila

Department of Pathology

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

Original language	English
Journal	American journal of medical genetics. Part B, Neuropsychiatric genetics
Volume	156B
Issue number	4
Pages (from-to)	448-453
Number of pages	6
ISSN	1552-4841
DOIs	https://doi.org/10.1002/ajmg.b.31180
Publication status	Published - 2011
MoE publication type	A1 Journal article-refereed

Fields of Science

duplication 6p22.2
SSADH
mild mental retardation
MENTAL-RETARDATION
GENE DOSAGE
DEFICIENCY
DELETION
ACID
6P
ABNORMALITIES
DELINEATION
ASSIGNMENT
DIAGNOSIS
3111 Biomedicine

Access to Document

10.1002/ajmg.b.31180

Cite this

Forsström (Siggberg), L., Mustonen, A., Schuit, R., Salomons, G. S., Roos, B., Gibson, K. M., Jakobs, C., Ignatius, J., & Knuutila, S. (2011). Familial 6p22.2 Duplication Associates With Mild Developmental Delay and Increased SSADH Activity. American journal of medical genetics. Part B, Neuropsychiatric genetics, 156B(4), 448-453. https://doi.org/10.1002/ajmg.b.31180

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AU - Forsström (Siggberg), Linda

AU - Mustonen, Aki

AU - Schuit, Robert

AU - Salomons, Gajja S.

AU - Roos, Birthe

AU - Gibson, K. Michael

AU - Jakobs, Cornelis

AU - Ignatius, Jaakko

AU - Knuutila, Sakari

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KW - GENE DOSAGE

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KW - ACID

KW - 6P

KW - ABNORMALITIES

KW - DELINEATION

KW - ASSIGNMENT

KW - DIAGNOSIS

KW - 3111 Biomedicine

U2 - 10.1002/ajmg.b.31180

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M3 - Article

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JO - American journal of medical genetics. Part B, Neuropsychiatric genetics

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