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XFE progeroid syndrome (XFEPS)

This syndrome is illustrated by one patient who presented with dwarfism, cachexia and microcephaly.

OTHER NAME(S): XPF-ERCC1 PROGEROID SYNDROME

ABREVIATION(S):
XFEPS

TYPE: microcephaly

Related patway(s): Fanconi anemia (FA) pathway, nucleotide excision repair (NER)

DNAtraffic protein(s) related to disease: ERCC4 (XPF)

OMIM: 610965

Last modification date: Nov. 17, 2011