TY  - GEN
AU  - Palencia-Campos, Adrián
AU  - Martinez-Fernandez, Maria Luisa
AU  - Altunoglu, Umut
AU  - Soto-Bielicka, Patricia
AU  - Torres, Antonio
AU  - Marín, Purificación
AU  - Aller, Elena
AU  - Şentürk, Leyli
AU  - Berköz, Ömer
AU  - Yıldıran, Mehmet
AU  - Kayserili, Hülya
AU  - Gil-Camarero, Elena
AU  - Colli-Lista, Gloria
AU  - Sanchís-Calvo, Amparo
AU  - Carretero, Alba
AU  - ECEMC Working Group on Polydactyly
AU  - Guillén-Navarro, Encarna
AU  - López-González, Vanesa
AU  - Ballesta-Martínez, María
AU  - Rosell, Jordi
AU  - Aglan, Mona S
AU  - Temtamy, Samia
AU  - Otaify, Ghada A
AU  - Cuevas Catalina, María Lourdes
AU  - Torres-Saavedra, María-Nieves
AU  - Nevado, Julián
AU  - Tenorio, Jair
AU  - Lapunzina, Pablo
AU  - Bermejo-Sanchez, Eva
AU  - Ruiz-Pérez, Víctor L
PY  - 2020
DO  - 10.1002/humu.23921
SN  - 1059-7794
UR  - https://hdl.handle.net/20.500.12105/26037
AB  - Postaxial polydactyly (PAP) is a frequent limb malformation consisting in the duplication of the fifth digit of the hand or foot. Morphologically, this condition is divided into type A and B, with PAP-B corresponding to a more rudimentary extra-digit....
LA  - eng
PB  - Wiley
KW  - GLI1
KW  - Hedgehog signaling
KW  - Incomplete penetrance
KW  - Limb development
KW  - Postaxial polydactyly A/B
KW  - Alleles
KW  - Amino Acid Substitution
KW  - Female
KW  - Fibroblasts
KW  - Fingers
KW  - Gene Expression
KW  - Genes, Dominant
KW  - Genes, Reporter
KW  - Genetic Association Studies
KW  - Genetic Predisposition to Disease
KW  - Genetic Variation
KW  - Genotype
KW  - Heterozygote
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Male
KW  - Pedigree
KW  - Phenotype
KW  - Polydactyly
KW  - Polymorphism, Single Nucleotide
KW  - Sequence Analysis, DNA
KW  - Toes
KW  - Zinc Finger Protein GLI1
TI  - Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B
TY  - research article
ER  -