Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndrome

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22 Citations (Scopus)

Original language	English
Pages (from-to)	2535-2542
Journal	American Journal of Medical Genetics Part A
Volume	152A
Issue number	10
DOIs	https://doi.org/10.1002/ajmg.a.33640
Publication status	Published - 2010

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title = "Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndrome",

author = "S. Fehr and Jennepher Downs and A. Bebbington and Helen Leonard",

year = "2010",

doi = "10.1002/ajmg.a.33640",

language = "English",

volume = "152A",

pages = "2535--2542",

journal = "Am J Med Genet A",

issn = "0148-7299",

publisher = "Wiley-Liss",

number = "10",

}

TY - JOUR

T1 - Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndrome

AU - Fehr, S.

AU - Downs, Jennepher

AU - Bebbington, A.

AU - Leonard, Helen

PY - 2010

Y1 - 2010

U2 - 10.1002/ajmg.a.33640

DO - 10.1002/ajmg.a.33640

M3 - Article

C2 - 20815036

VL - 152A

SP - 2535

EP - 2542

JO - Am J Med Genet A

JF - Am J Med Genet A

SN - 0148-7299

IS - 10

ER -