Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B.

Filiacions

Palencia-Campos A:

Instituto de Investigaciones Biomédicas "Alberto Sols", CSIC-UAM, 28029, Madrid, Spain

CIBER de Enfermedades Raras (CIBERER), Institute of Health Carlos III, Spain

Martínez-Fernández ML:

ECEMC (Spanish Collaborative Study of Congenital Malformations), Research Center on Congenital Anomalies (CIAC), Institute of Health Carlos III, 28029, Madrid, Spain

Altunoglu U:

Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey

Soto-Bielicka P:

Instituto de Investigaciones Biomédicas "Alberto Sols", CSIC-UAM, 28029, Madrid, Spain

Torres A:

Paediatric Unit, Hospital San Juan de La Cruz. Úbeda (Jaén), Spain

Marín P:

Dysmorphology and Neonatology Service. Hospital Universitario y Politécnico La Fe., Valencia, Spain

Aller E:

CIBER de Enfermedades Raras (CIBERER), Institute of Health Carlos III, Spain

Genetic Unit, Hospital La Fe, Valencia, Spain

Sentürk L:

Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey

Berköz Ö:

Department of Reconstructive and aesthetic Surgery, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey

Yildiran M:

Department of Reconstructive and aesthetic Surgery, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey

Kayserili H:

Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey

Medical Genetics Department, Koç University School of Medicine, Istanbul, Turkey

Gil-Camarero E:

Paediatric Unit, Hospital Comarcal, Laredo, (Cantabria), Spain

Colli-Lista G:

Paediatric Unit, Hospiten Estepona, Estepona, (Málaga), Spain

Sanchís-Calvo A:

Paediatric Unit, Hospital Universitario Doctor Peset, Valencia, Spain

Carretero A:

Instituto de Investigaciones Biomédicas "Alberto Sols", CSIC-UAM, 28029, Madrid, Spain

ECEMC Working Group on Polydactyly:

Paediatric Units from different hospitals†, all part of ECEMC (Spanish Collaborative Study of Congenital Malformations) Clinical Network, Spain

Guillén-Navarro E:

CIBER de Enfermedades Raras (CIBERER), Institute of Health Carlos III, Spain

Genetic Medicine Unit, Paediatric Unit, Hospital Clínico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, El Palmar, Murcia, Spain

López-González V:

CIBER de Enfermedades Raras (CIBERER), Institute of Health Carlos III, Spain

Genetic Medicine Unit, Paediatric Unit, Hospital Clínico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, El Palmar, Murcia, Spain

Ballesta-Martínez M:

CIBER de Enfermedades Raras (CIBERER), Institute of Health Carlos III, Spain

Genetic Medicine Unit, Paediatric Unit, Hospital Clínico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, El Palmar, Murcia, Spain

Rosell J:

CIBER de Enfermedades Raras (CIBERER), Institute of Health Carlos III, Spain

Genetic Unit, Hospital Son Espases, Palma de Mallorca, Balearic, Islands, Spain

Aglan MS:

Department of Clinical Genetics. Human Genetics and Genome Research Division, Centre of Excellence of Human Genetics, National Research Centre, Cairo, Egypt

Temtamy S:

Department of Clinical Genetics. Human Genetics and Genome Research Division, Centre of Excellence of Human Genetics, National Research Centre, Cairo, Egypt

Otaify GA:

Department of Clinical Genetics. Human Genetics and Genome Research Division, Centre of Excellence of Human Genetics, National Research Centre, Cairo, Egypt

Cuevas-Catalina L:

ECEMC (Spanish Collaborative Study of Congenital Malformations), Research Center on Congenital Anomalies (CIAC), Institute of Health Carlos III, 28029, Madrid, Spain

Torres-Saavedra MN:

ECEMC (Spanish Collaborative Study of Congenital Malformations), Research Center on Congenital Anomalies (CIAC), Institute of Health Carlos III, 28029, Madrid, Spain

CS Federica Montseny, Unidad Asistencial Sureste, Madrid, Spain

Nevado J:

Institute of Medical and Molecular Genetics (INGEMM)-IdiPAZ, Hospital Universitario La Paz-UAM Paseo de La Castellana, 261, 28046, Madrid, Spain

Tenorio J:

CIBER de Enfermedades Raras (CIBERER), Institute of Health Carlos III, Spain

Institute of Medical and Molecular Genetics (INGEMM)-IdiPAZ, Hospital Universitario La Paz-UAM Paseo de La Castellana, 261, 28046, Madrid, Spain

Lapunzina P:

CIBER de Enfermedades Raras (CIBERER), Institute of Health Carlos III, Spain

Institute of Medical and Molecular Genetics (INGEMM)-IdiPAZ, Hospital Universitario La Paz-UAM Paseo de La Castellana, 261, 28046, Madrid, Spain

Bermejo-Sánchez E:

ECEMC (Spanish Collaborative Study of Congenital Malformations), Research Center on Congenital Anomalies (CIAC), Institute of Health Carlos III, 28029, Madrid, Spain

Institute of Rare Diseases Research (IIER), Institute of Health Carlos III, 28029, Madrid, Spain

Ruiz-Pérez VL:

Instituto de Investigaciones Biomédicas "Alberto Sols", CSIC-UAM, 28029, Madrid, Spain

CIBER de Enfermedades Raras (CIBERER), Institute of Health Carlos III, Spain