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