(Q41923607)

14 October 2017

title

Microphthalmia, facial anomalies, microcephaly, thumb and hallux hypoplasia, and agammaglobulinemia (English)

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14 October 2017

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A Verloes

1

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14 October 2017

M F Dresse

2

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14 October 2017

H Keutgen

3

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14 October 2017

C Asplund

4

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14 October 2017

C I Smith

5

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14 October 2017

publication date

1 July 2001

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American Journal of Medical Genetics Part A

14 October 2017

published in

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14 October 2017

volume

101

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14 October 2017

issue

3

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14 October 2017

page(s)

209-212

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An essential role for BLNK in human B cell development

14 October 2017

cites work

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Recent progress in the diagnosis and treatment of patients with defects in early B-cell development

21 January 2018

1 reference

Immunodeficiency as a component of recognizable syndromes

21 January 2018

1 reference

Ophthalmo-acromelic syndrome: report and review

21 January 2018

1 reference

The PAX5 gene: a linkage and mutation analysis in candidate human primary immunodeficiencies

21 January 2018

1 reference

Improved oligonucleotide primer set for molecular diagnosis of X-linked agammaglobulinaemia: predominance of amino acid substitutions in the catalytic domain of Bruton's tyrosine kinase

21 January 2018

1 reference

A syndrome with true anophthalmia, hand-foot defects and mental retardation

21 January 2018

1 reference

Complete block of early B cell differentiation and altered patterning of the posterior midbrain in mice lacking Pax5/BSAP

21 January 2018

1 reference

Females with a disorder phenotypically identical to X-linked agammaglobulinemia

21 January 2018

1 reference

DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/AJMG.1373

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14 October 2017

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