Absence of thumbs, a/hypoplasia of radius, hypoplasia of ulnae, retarded bone age, short stature, microcephaly, hypoplastic genitalia, and mental retardation
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference18 articles.
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2. Spectrum of anomalies in Fanconi anaemia;Glaze;J Med Genet,1982
3. New autosomal dominant radial ray hypoplasia syndrome;Goldblatt;Am J Med Genet,1987
4. Somatic mosaicism in Fanconi anemia: evidence of genotypic reversion in lymphohematopoietic stem cells;Gregory;Proc Natl Acad Sci USA,2001
5. Thrombocytopenia and absent radius (TAR) syndrome;Hall;J Med Genet,1987
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