Disease: Limb deficiencies distal micrognathia
- Apparent cyclophosphamide (cytoxan) embryopathy: a distinct phenotype?
- Apparently new autosomal recessive syndrome of mental retardation, distal limb deficiencies, oral involvement, and possible renal defect
- Cohen syndrome. Contribution to its clinical delineation
- Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements
- Distal limb deficiencies, oral involvement, and renal defect: report of a third patient and confirmation of a distinct entity
- Microduplication of BTRC detected in a Chinese family with split hand/foot malformation type 3
- Vascular Ehlers-Danlos Syndrome