Microphthalmia, facial anomalies, microcephaly, thumb and hallux hypoplasia, and agammaglobulinemia
- 11 May 2001
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 101 (3) , 209-212
- https://doi.org/10.1002/ajmg.1373
Abstract
No abstract availableKeywords
This publication has 10 references indexed in Scilit:
- Ophthalmo-acromelic syndrome: Report and reviewAmerican Journal of Medical Genetics, 2000
- An Essential Role for BLNK in Human B Cell DevelopmentScience, 1999
- Recent progress in the diagnosis and treatment of patients with defects in early B-cell developmentCurrent Opinion in Pediatrics, 1999
- Genomic instability associated with limb defectsClinical Dysmorphology, 1997
- Immunodeficiency as a component of recognizable syndromesAmerican Journal of Medical Genetics, 1996
- Improved oligonucleotide primer set for molecular diagnosis of X-linked agammaglobulinaemia: predominance of amino acid substitutions in the catalytic domain of Bruton's tyrosine kinaseHuman Molecular Genetics, 1995
- DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemiaHuman Molecular Genetics, 1995
- Complete block of early B cell differentiation and altered patterning of the posterior midbrain in mice lacking Pax5/BSAPCell, 1994
- Females with a disorder phenotypically identical to X-linked agammaglobulinemiaJournal of Clinical Immunology, 1992
- A syndrome with true anophthalmia, hand-foot defects and mental retardationOphthalmic Genetics, 1984