Bernstein PS, Gross SJ, Cohen DJ et al (1996) Prenatal diagnosis of type 2 Pfeiffer syndrome. Ultrasound Obstet Gynecol 8(6):425–428Bernstein PS, Gross SJ, Cohen DJ, et al. Prenatal diag- nosis of type 2 Pfeiffer syndrome. Ultrasound Obstet Gynecol 1996;8:425 - 8....
Pfeiffer syndrome type 2 associated with a single amino acid deletion in the PGFR2 gene 来自 Wiley 喜欢 0 阅读量: 19 作者: M Priolo,M Lerone,M Baffico,M Baldi,R Ravazzolo,A Cama,V Capra,M Silengo 展开 摘要: No abstract is available for this article. 展开 关键词: CAG repeat...
A Delayed Finding of a Tracheal Cartilaginous Sleeve in a Patient with Pfeiffer Syndrome Type 2 and a Complex Airway Historydoi:10.1213/XAA.0000000000000175Colomb, CamilleHippard, Helena KarlbergCanadas, KarinaWatcha, MehernoorA&A Practice
Apert syndrome: A consensus on the management of Apert hands Journal of Cranio-Maxillofacial Surgery, Volume 45, Issue 2, 2017, pp. 223-231 David A. Pettitt,…, Paul McArthur Show 3 more articles Article Metrics Citations Citation Indexes: 30 Captures Readers: 14 Mentions References: 1 View...
Nauck MA, Quast DR, Wefers J, Pfeiffer AFH. The evolving story of incretins (GIP and GLP-1) in metabolic and cardiovascular disease: a pathophysiological update. Diabetes Obes Metab. 2021;23(S3):5–29. Article PubMed CAS Google Scholar Suh S, Kim MY, Kim SK, Hur KY, Park MK, Kim...
clinical studies of disease etiology revealed that systemic inflammatory diseases such as irritable bowel syndrome (IBS) are highly correlated with PD122,123. This connection is well understood largely due to a decade of research investigating the intimate link between the gut-brain axis and how micr...
ten; ROCK1, Rho-associated protein kinase 1; SCP1, synaptonemal complex protein 1; SPA17, sperm autoantigenic protein 17; TIMP2, tissue inhibitor of metalloproteinase 2; TPTE, transmembrane phosphatases with tensin homology; TPX1, testis specific protein 1; WASP, Wiskott–Aldrich syndrome protein...
We used homozygosity mapping in two families with autosomal-recessive short-rib polydactyly syndrome Majewski type to identify mutations in NEK1 as an underlying cause of this lethal osteochondrodysplasia. NEK1 encodes a serine/threonine kinase with proposed function in DNA double-strand repair, ...
development of the para-axial mesoderm with herniation of the cerebellar tonsils, resulting in a small posterior fossa and a crowded foramen magnum. This is consistent with a proposed association with other mesodermal connective tissue disorders, for example, Ehlers-Danlos syndrome[13], although the ...
Do not use Mounjaro if you have Multiple Endocrine Neoplasia syndrome type 2 (MEN 2). Do not use Mounjaro if you are allergic to tirzepatide or any of the ingredients in Mounjaro. Mounjaro may cause serious ...