(Q48569669)

English

Familial lethal skeletal dysplasia with cloverleaf skull and multiple anomalies of brain, eye, face and heart: a new autosomal recessive multiple congenital anomalies syndrome

scientific article published in May 2002

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/12081722

Familial lethal skeletal dysplasia with cloverleaf skull and multiple anomalies of brain, eye, face and heart: a new autosomal recessive multiple congenital anomalies syndrome (English)

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/12081722

author name string

Sharony R

1

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/12081722

Kidron D

2

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/12081722

Amiel A

3

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/12081722

Fejgin M

4

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/12081722

Borochowitz ZU

5

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/12081722

publication date

1 May 2002

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/12081722

Clinical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/12081722

61

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/12081722

5

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/12081722

369-374

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/12081722

Further heterogeneity within lethal neonatal short-limbed dwarfism: The platyspondylic types

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610509.X

21 January 2018

Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610509.X

21 January 2018

Cloverleaf skull and thanatophoric dwarfism. Report of four cases, two in the same sibship

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610509.X

21 January 2018

Osteocraniostenosis

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610509.X

21 January 2018

Further delineation of the Beemer-Langer syndrome using concordance rates in affected sibs

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610509.X

21 January 2018

Perinatal lethal hypophosphatasia; Clinical, radiologic and morphologic findings

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610509.X

21 January 2018

Prenatal diagnosis of the skeletal dysplasias.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610509.X

21 January 2018

A distinct lethal neonatal chondrodysplasia with snail-like pelvis: Schneckenbecken dysplasia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610509.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Intrauterine dwarfism, peculiar facies and thin bones with multiple fractures--a new syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610509.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Omphalocele and multiple severe congenital anomalies associated with osteodysplasty (Melnick-Needles syndrome)

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610509.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1034/J.1399-0004.2002.610509.X

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/12081722

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/12081722

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