Apparently new autosomal dominant Spondyloepimetaphyseal dysplasia: gonadal mosaicism onset

T J L de Ravel; L De Smet; J-P Fryns

doi:10.1097/00019605-200210000-00006

Apparently new autosomal dominant Spondyloepimetaphyseal dysplasia: gonadal mosaicism onset

T J L de Ravel, L De Smet, J-P Fryns

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1 Citation (Scopus)

Abstract

We report a family in which an apparently previously undescribed form of Spondyloepimetaphyseal dysplasia (SEMD) presented after probable gonadal mosaicism occurred and is inherited in an autosomal dominant mode. The other autosomal dominant SEMDs are compared.

Original language	English
Pages (from-to)	261-266
Number of pages	6
Journal	Clinical Dysmorphology
Volume	11
Issue number	4
DOIs	https://doi.org/10.1097/00019605-200210000-00006
Publication status	Published - 2002

Keywords

Adolescent
Adult
Child, Preschool
Collagen Type II/genetics
Family Health
Female
Genes, Dominant
Hip Joint/abnormalities
Humans
Knee Joint/abnormalities
Mosaicism/genetics
Osteochondrodysplasias/genetics
Spine/abnormalities

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10.1097/00019605-200210000-00006

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title = "Apparently new autosomal dominant Spondyloepimetaphyseal dysplasia: gonadal mosaicism onset",

abstract = "We report a family in which an apparently previously undescribed form of Spondyloepimetaphyseal dysplasia (SEMD) presented after probable gonadal mosaicism occurred and is inherited in an autosomal dominant mode. The other autosomal dominant SEMDs are compared.",

keywords = "Adolescent, Adult, Child, Preschool, Collagen Type II/genetics, Family Health, Female, Genes, Dominant, Hip Joint/abnormalities, Humans, Knee Joint/abnormalities, Mosaicism/genetics, Osteochondrodysplasias/genetics, Spine/abnormalities",

author = "{de Ravel}, {T J L} and {De Smet}, L and J-P Fryns",

year = "2002",

doi = "10.1097/00019605-200210000-00006",

language = "English",

volume = "11",

pages = "261--266",

journal = "Clinical Dysmorphology",

issn = "0962-8827",

publisher = "Lippincott, Williams & Wilkins",

number = "4",

}

TY - JOUR

T1 - Apparently new autosomal dominant Spondyloepimetaphyseal dysplasia

T2 - gonadal mosaicism onset

AU - de Ravel, T J L

AU - De Smet, L

AU - Fryns, J-P

PY - 2002

Y1 - 2002

N2 - We report a family in which an apparently previously undescribed form of Spondyloepimetaphyseal dysplasia (SEMD) presented after probable gonadal mosaicism occurred and is inherited in an autosomal dominant mode. The other autosomal dominant SEMDs are compared.

AB - We report a family in which an apparently previously undescribed form of Spondyloepimetaphyseal dysplasia (SEMD) presented after probable gonadal mosaicism occurred and is inherited in an autosomal dominant mode. The other autosomal dominant SEMDs are compared.

KW - Adolescent

KW - Adult

KW - Child, Preschool

KW - Collagen Type II/genetics

KW - Family Health

KW - Female

KW - Genes, Dominant

KW - Hip Joint/abnormalities

KW - Humans

KW - Knee Joint/abnormalities

KW - Mosaicism/genetics

KW - Osteochondrodysplasias/genetics

KW - Spine/abnormalities

U2 - 10.1097/00019605-200210000-00006

DO - 10.1097/00019605-200210000-00006

M3 - Article

C2 - 12401991

VL - 11

SP - 261

EP - 266

JO - Clinical Dysmorphology

JF - Clinical Dysmorphology

SN - 0962-8827

IS - 4

ER -

Apparently new autosomal dominant Spondyloepimetaphyseal dysplasia: gonadal mosaicism onset

Abstract

Keywords

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