Rare Etiology of Autosomal Recessive Disease in a Child with Noncarrier Parents

Author:

Lebo Roger V.,Shapiro Lawrence R.,Fenerci Elif Yosunkaya,Hoover J.M.,Chuang Jacinta L.,Chuang David T.,Kronn David F.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference14 articles.

1. Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints;Amos-Landgraf;Am J Hum Genet,1999

2. The meiotic stage of nondisjunction in trisomy 21: determination by using DNA polymorphisms;Antonarakis;Am J Hum Genet,1992

3. Homozygous nonsense mutation causing cystic fibrosis with uniparental disomy;Beaudet;Am J Hum Genet,1991

4. Transacylase-deficient (Type II) maple syrup urine disease aberrant splicing of E2 mRNA caused by internal intronic deletions and association with thiamine-responsive phenotype;Chuang;J Clin Invest,1997

5. Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1;Dufourcq-Lagelouse;Eur J Hum Genet,1999

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