TY  - GEN
AU  - Mahoney,My G
AU  - Sadowski,Sara
AU  - Brennan,Donna
AU  - Pikander,Pekka
AU  - Saukko,Pekka
AU  - Wahl,James
AU  - Aho,Heikki
AU  - Heikinheimo,Kristiina
AU  - Bruckner-Tuderman,Leena
AU  - Fertala,Andrzej
AU  - Peltonen,Juha
AU  - Uitto,Jouni
AU  - Peltonen,Sirkku
TI  - Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities
SN  - 1523-1747
PY  - 2010///0416
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Adolescent
KW  - Dental Enamel
KW  - abnormalities
KW  - Desmoplakins
KW  - chemistry
KW  - Desmosomes
KW  - pathology
KW  - Family Health
KW  - Fatal Outcome
KW  - Female
KW  - Hair
KW  - Heart Defects, Congenital
KW  - Heterozygote
KW  - Humans
KW  - Keratoderma, Palmoplantar, Epidermolytic
KW  - Mouth Mucosa
KW  - Mutation, Missense
KW  - Nail Diseases
KW  - Phenotype
KW  - Protein Structure, Tertiary
KW  - Skin Abnormalities
KW  - Tooth Abnormalities
N1  - Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/jid.2009.357
ER  -