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A case of PAPASH syndrome in a young man carrying a novel heterozygote missense variant in PSTPIP1.
M Kotzerke
Fouad Mitri
F Marbach
A Enk
Holger A Haenssle
Published in:
Journal of the European Academy of Dermatology and Venereology : JEADV (2021)
Keyphrases
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intellectual disability
case report
middle aged