TY  - GEN
AU  - Has,Cristina
AU  - Castiglia,Daniele
AU  - del Rio,Marcela
AU  - Diez,Marta Garcia
AU  - Piccinni,Eugenia
AU  - Kiritsi,Dimitra
AU  - Kohlhase,Jürgen
AU  - Itin,Peter
AU  - Martin,Ludovic
AU  - Fischer,Judith
AU  - Zambruno,Giovanna
AU  - Bruckner-Tuderman,Leena
TI  - Kindler syndrome: extension of FERMT1 mutational spectrum and natural history
SN  - 1098-1004
PY  - 2012///0531
KW  - Adolescent
KW  - Adult
KW  - Blister
KW  - genetics
KW  - Child
KW  - Child, Preschool
KW  - Epidermolysis Bullosa
KW  - Genetic Association Studies
KW  - Humans
KW  - Membrane Proteins
KW  - Mutation
KW  - Mutation, Missense
KW  - Neoplasm Proteins
KW  - Periodontal Diseases
KW  - Phenotype
KW  - Photosensitivity Disorders
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Review
UR  - https://doi.org/10.1002/humu.21576
ER  -