Shan Chen

Mutations in prickle orthologs cause seizures in flies, mice, and humans.

J. Rosenfeld, L. Shaffer, M. Scott, 2011, American journal of human genetics.

A distinct autosomal recessive ataxia maps to chromosome 12in an inbred family from Jordan

S. Leal, R. Spiegel, Kwanghyuk Lee, 2006, Brain and Development.

Persistent Facial Flushing in a Patient with Telangiectasia Macularis Eruptiva Perstans: An Unusual but Should Emphasized Clinical Finding

Shan Chen, Xiujuan Jia, Qiri Mu, 2022, Clinical, cosmetic and investigational dermatology.

CCID_A_371921 1309..1312

Shan Chen, Xiujuan Jia, Qiri Mu, 2022 .

A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome.

M. Scott, J. Axelrod, A. Bassuk, 2008, American journal of human genetics.

A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis.

S. Leal, D. Ahram, M. Tayeh, 2009, American journal of human genetics.

Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome)

S. Leal, A. Munnich, P. Ferguson, 2005, Journal of Medical Genetics.

A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis.

S. Leal, D. Ahram, H. El-Shanti, 2009, American journal of human genetics.