Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome (Q24654894)

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J J Cox

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I Kesterton

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N S Thomas

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C Carr

Journal of Medical Genetics

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language of work or name

English

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publication date

September 2006

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published in

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volume

43

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issue

9

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page(s)

750-4

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cites work

A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M

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X-linked inheritance of Fanconi anemia complementation group B

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VACTERL with hydrocephalus: a further case with probable autosomal recessive inheritance

7 April 2017

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VACTERL with hydrocephalus: further delineation of the syndrome(s)

7 April 2017

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VACTERL with hydrocephalus: family with X-linked VACTERL-H.

28 September 2017

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The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J

30 May 2018

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Should chromosome breakage studies be performed in patients with VACTERL association?

28 November 2018

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X inactivation in females with X-linked disease.

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Nonrandom X-chromosome inactivation in hemopoietic cells from carriers of dyskeratosis congenita

28 November 2018

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X-linked VACTERL with hydrocephalus: the VACTERL-H syndrome.

28 November 2018

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Association of complementation group and mutation type with clinical outcome in fanconi anemia. European Fanconi Anemia Research Group

28 November 2018

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12 December 2020

Age- and tissue-specific variation of X chromosome inactivation ratios in normal women

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12 December 2020

VACTERL with hydrocephalus: one end of the Fanconi anemia spectrum of anomalies?

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12 December 2020

VACTERL with hydrocephalus: spontaneous chromosome breakage and rearrangement in a family showing apparent sex-linked recessive inheritance

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12 December 2020

A PCR based X-chromosome inactivation assay for carrier detection in X-linked immunodeficiencies using differential methylation of the androgen receptor gene

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VACTERL with hydrocephalus in twins due to Fanconi anemia (FA): mutation in the FAC gene

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X Inactivation in Females with X-Linked Disease

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Identifiers

DOI

10.1136/JMG.2006.041673

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PubMed publication ID

16679491

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