Associated Papers
The clinical utility of rapid exome sequencing in a consanguineous population.
Monies D et al.
Genome Medicine, 2023
The value of DNA storage and pedigree analysis in rare diseases: a 17-year-old boy with X-linked lymphoproliferative disease (XLP) caused by a de novo SH2D1A mutation.
Overwater E et al.
European Journal of Pediatrics, 2014
[Genetic and proteinic analysis of a Chinese boy with X-linked lymphoproliferative disease and his maternal relatives].
Yang X et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2011
A unique clinical presentation of X-linked lymphoproliferative syndrome with a novel mutation in SH2D1A and review of the literature.
Eckrich MJ et al.
Journal of Pediatric Hematology/oncology, 2011
X-linked lymphoproliferative disease associated with hypogammaglobulinemia and growth-hormone deficiency.
Alangari A et al.
European Journal of Pediatrics, 2006
[X-linked hypogammaglobulinemia with growth hormone deficiency].
Saito M et al.
Ryoikibetsu Shokogun Shirizu, 2000
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