407 Next generation sequencing approaches identify a novel Alu recombination-mediated large intronic deletion in CDH3 in a family with hypotrichosis with juvenile macular dystrophy (HJMD)

Authors :: Leila Youssefian
Jouni Uitto
M. Sargazi
Hassan Vahidnezhad
Amir Hossein Saeidian
Soheila Sotoudeh
Sirous Zeinali
Source :: Journal of Investigative Dermatology. 139:S70
Publication Year :: 2019
Publisher :: Elsevier BV, 2019.

Subjects :: Genetics
medicine
Juvenile
Hypotrichosis
Cell Biology
Dermatology
Macular dystrophy
Biology
medicine.disease
Molecular Biology
Biochemistry
DNA sequencing
Recombination

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