Aleksandra Szczawińska-Popłonyk Natalia Popłonyk Marek Niedziela Anna Sowińska-Seidler Paweł Sztromwasser Aleksander Jamsheer Monika Obara-Moszyńska
10.3389/fped.2022.990111
Front Pediatr
2022 Oct 14;10:990111.
map2k1 craniofacial dysmorphism growth hormone immunodeficiency immunoglobulins rasopathy short stature
CC BY
https://pubmed.ncbi.nlm.nih.gov/36313893/
Case Reports
PMC9614356
36313893
Case report: The cardio-facio-cutaneous syndrome due to a novel germline mutation in MAP2K1: A multifaceted disease with immunodeficiency and short stature
2022