Zobrazeno 1 - 2
of 2
pro vyhledávání: '"E M, McGhee"'
Publikováno v:
Clinical genetics. 59(4)
Monosomy for the short arm of chromosome 18 is one of the most frequent autosomal deletions observed. While most cases result from terminal deletion of 18p, 16% of cases reported were as a result of an unbalanced whole arm translocation resulting in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6a2a50b4bc167f88ac894202f7c26fba
https://pubmed.ncbi.nlm.nih.gov/11298684
https://pubmed.ncbi.nlm.nih.gov/11298684
Publikováno v:
American journal of medical genetics. 93(3)
Coffin-Siris syndrome is characterized by intrauterine growth retardation, mental deficiency, coarse face, hypoplastic fifth fingers and nails, hirsutism, and initial difficulties with feeding. The etiology of this syndrome is unknown. We report on a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7970abf656fa6d77e4a2c48f25c09fe0
https://pubmed.ncbi.nlm.nih.gov/10925390
https://pubmed.ncbi.nlm.nih.gov/10925390