Intestinal Lymphangiectasia
What's New
Last Posted: May 02, 2023
- Possible biallelic inheritance in TIE1 in a family with congenital lymphedema, intestinal lymphangiectasia and cutis aplasia.
Aasem Abu Shtaya, et al. Clinical genetics 2023 0 - Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome.
Boone Philip M, et al. American journal of medical genetics. Part A 2019 0 (1) 189-194 - Phenotype and Genotype of a Cohort of Chinese Children with Early-Onset Protein-Losing Enteropathy.
Ye Ziqing, et al. The Journal of pediatrics 2019 0 38-42.e3 - The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome.
Joyce Sarah, et al. European journal of human genetics : EJHG 2015 8 - Aplasia cutis congenita intestinal lymphangiectasia
From NCATS Genetic and Rare Diseases Information Center - Intestinal lymphangiectasia
From NCATS Genetic and Rare Diseases Information Center - Primary intestinal lymphangiectasia
From NCATS Genetic and Rare Diseases Information Center - HGF and MET mutations in primary and secondary lymphedema.
Finegold David N, et al. Lymphatic research and biology 2008 0 (2) 65-8
About Rare Diseases PHGKB
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
- Content source: