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Paper Details

Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly.
Genet Med
5
2021
Author NameAffiliation
Denise HornInstitute of Medical Genetics and Human Genetics, Charite - Universitatsmedizin Berlin, corporate member of Freie Universitat Berlin, Humboldt-Universitat zu Berlin, and Berlin Institute of Health
Juli??n NevadoInstituto de Salud Carlos III (ISCIII)
Juli??n NevadoInstituto de Genetica Medica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Universidad Autonoma
Juli??n Nevado
Nadja EhmkeInstitute of Medical Genetics and Human Genetics, Charite - Universitatsmedizin Berlin, corporate member of Freie Universitat Berlin, Humboldt-Universitat zu Berlin, and Berlin Institute of Health
Pablo LapunzinaInstituto de Salud Carlos III (ISCIII)
Pablo LapunzinaInstituto de Genetica Medica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Universidad Autonoma
Pablo Lapunzina
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