First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation (Q28205042)

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S Schellmoser

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C Kraus

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H G Dörr

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U Trautmann

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M R Altherr

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R A Pfeiffer

American Journal of Medical Genetics Part A

7

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language of work or name

English

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publication date

1 April 2001

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published in

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volume

99

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issue

4

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page(s)

338-42

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cites work

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LETM1, a novel gene encoding a putative EF-hand Ca(2+)-binding protein, flanks the Wolf-Hirschhorn syndrome (WHS) critical region and is deleted in most WHS patients

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Preliminary phenotypic map of chromosome 4p16 based on 4p deletions.

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Pitt-Rogers-Danks syndrome and Wolf-Hirschhorn syndrome are caused by a deletion in the same region on chromosome 4p 16.3.

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Translocations involving 4p16.3 in three families: deletion causing the Pitt-Rogers-Danks syndrome and duplication resulting in a new overgrowth syndrome

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The PWWP domain: a potential protein-protein interaction domain in nuclear proteins influencing differentiation?

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WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma

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Interstitial deletions of the short arm of chromosome 4 in patients with a similar combination of multiple minor anomalies and mental retardation

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Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion

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Wolf-Hirschhorn and Pitt-Rogers-Danks syndromes caused by overlapping 4p deletions

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Comparative analysis of a novel gene from the Wolf-Hirschhorn/Pitt-Rogers-Danks syndrome critical region

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A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region

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Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome.

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Wolf-Hirschhorn syndrome and Pitt-Rogers-Danks syndrome

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High resolution characterization of an interstitial deletion of less than 1.9 Mb at 4p16.3 associated with Wolf-Hirschhorn syndrome

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FISH detection of Wolf-Hirschhorn syndrome: exclusion of D4F26 as critical site

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Phenotypic mapping and clinical ideology

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Genetic and clinical studies in 13 patients with the Wolf-Hirschhorn syndrome [del(4p)]

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