Metadata | |
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ID | DOID:0070138 |
Name | autosomal recessive cutis laxa type IIIB |
Definition | An autosomal recessive cutis laxa type III that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25. https://www.ncbi.nlm.nih.gov/pubmed/19648921 |
Xrefs | |
Synonyms |
ARCL3B [EXACT] De Barsy syndrome B [EXACT] |
Parent Relationships |