A case of atelosteogenesis.

Author:

Temple K,Hall C A,Chitty L,Baraitser M

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference6 articles.

1. Maroteaux P, Spranger J, Stanescu V, et al. Atelosteogenesis. Am J Med Genet 1982;13:15-25.

2. Spondylohumerofemoral hypoplasia (giant cell chondrodysplasia). A neonatally lethal short-limb skeletal dysplasia;Silence, D.O.; Lachman, R.S.; Jenkins, T.; Riccardi, V.M.; Rimoin, D.L.;Am J Med Genet,1982

3. Two lethal chondrodysplasias with giant chondrocytes;Yang, S.S.; Roskamp, J.; Tiu, C.T.;Am J Med Genet,1983

4. New forms of neonatal death dwarfism. Report of 3 cases;Kozlowski, K.; Tsuruta, T.; Kameda, Y.;Pediatri Radiol,1981

5. Atlas ofskeletal dysplasias;Wynne-Davies, R.; Hall, C.M.; Apley, A.G.,1985

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1. ABSENCE OF BONES AT BIRTH - A DIAGNOSTIC DILEMMA;Indian Journal of Child Health;2018-11-30

2. Atelosteogenesis type III: orthopedic management;Journal of Pediatric Orthopaedics B;2017-11

3. Identification of a De Novo Heterozygous Missense FLNB Mutation in Lethal Atelosteogenesis Type I by Exome Sequencing;Annals of Laboratory Medicine;2014-03-01

4. Clinical report: Two patients with atelosteogenesis type I caused by missense mutations affecting the sameFLNBresidue;American Journal of Medical Genetics Part A;2013-02-11

5. Chondrodysplasias;Emery and Rimoin's Principles and Practice of Medical Genetics;2013

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