Bilateral radial ray hypoplasia with multiple epiphyseal dysplasia

Smith's Recognizable Patterns of Human Malformation

1998 • 1,959 citations

Smith's recognizable patterns of human malformation

1997 • 1,917 citations

Mendelian Inheritance in Man

1998 • 760 citations

A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome

1994 • 617 citations

Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene

1995 • 508 citations

Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2

1994 • 466 citations

Prenatal and Postnatal Diagnosis and Carrier Detection of Fanconi Anemia by a Cytogenetic Method

1981 • 236 citations

Principles and Practice of Medical Genetics

1997 • 220 citations

A mutation in the gene encoding the α2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2)

1996 • 205 citations

Roberts syndrome: A review of 100 cases and a new rating system for severity

1993 • 181 citations

Infancy-onset diabetes mellitus and multiple epiphyseal dysplasia

1972 • 141 citations

Atlas of Skeletal Dysplasias

1986 • 87 citations

Multiple epiphyseal dysplasia, Fairbank type: Morphologic and biochemical study of cartilage

1993 • 82 citations

Exclusion of the cartilage link protein and the cartilage matrix protein genes as the mutant loci in several heritable chondrodysplasias

1994 • 82 citations

Development of the hip in multiple epiphyseal dysplasia. Natural history and susceptibility to premature osteoarthritis

1990 • 65 citations

Genetic linkage mapping of multiple epiphyseal dysplasia to the pericentromeric region of chromosome 19.

1994 • 47 citations

Genetic heterogeneity in multiple epiphyseal dysplasia.

1995 • 44 citations

Radial ray defects and associated anomalies

1989 • 42 citations

A Childhood Syndrome of Bone Dysplasia, Retinal Detachment and Deafness

1967 • 28 citations

Multiple Epiphyseal Dysplasia

1973 • 28 citations

Avascular Necrosis of the Hip in Multiple Epiphyseal Dysplasia

1989 • 27 citations

Multiple epiphyseal dysplasia with small head, congenital nystagmus, hypoplasia of corpus callosum, and leukonychia totalis: A variant of Lowry‐Wood syndrome?

1995 • 15 citations

Epiphyseal dysplasia of the femoral head, severe myopia and perceptive hearing loss in three brothers

1973 • 14 citations

Epiphyseal dysplasia, microcephaly, nystagmus, and retinitis pigmentosa

1989 • 14 citations

Arthritis in children with multiple epiphyseal dysplasia.

1985 • 13 citations

Fairbank's Atlas of General Affections of the Skeleton

1977 • 12 citations

Hereditary multiple epiphysial dysplasia*

1967 • 12 citations

Syndrome of multiple epiphyseal dysplasia (ribbing type) with rhizomelic shortness, cleft palate, and micrognathia in two unrelated patients

1996 • 4 citations