Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

Lenz-Majewski hyperostotic dwarfism

An extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis.

Aplastic clavicle

Absence of the clavicles as a developmental defect.

合計: 0

（表示件数）

PMID (PMCID)