(Q44045613)

29 November 2017

title

Brief clinical report: a 46,XY phenotypic female with Smith-Lemli-Opitz syndrome (English)

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1991.TB03000.X

9 December 2022

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1991.TB03000.X

9 December 2022

author name string

M. F. Lachman

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1849804

9 December 2022

Y. Wright

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1849804

9 December 2022

D. A. Whiteman

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1849804

9 December 2022

V. Herson

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1849804

9 December 2022

R. M. Greenstein

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1849804

9 December 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1849804

9 December 2022

publication date

1 February 1991

1 reference

full work available at URL

29 November 2017

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1399-0004.1991.tb03000.x

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1991.TB03000.X

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1991.tb03000.x/fullpdf

9 December 2022

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1991.TB03000.X

9 December 2022

1 reference

29 November 2017

volume

39

1 reference

29 November 2017

issue

2

1 reference

29 November 2017

page(s)

136-141

1 reference

Two cases of severe lethal Smith-Lemli-Opitz syndrome

29 November 2017

cites work

1

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1991.TB03000.X

Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality

9 December 2022

3

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1991.TB03000.X

Nesidioblastosis and other islet cell abnormalities in hyperinsulinemic hypoglycemia of childhood

9 December 2022

4

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1991.TB03000.X

Smith-Lemli-Opitz syndrome in two 46,XY infants with female external genitalia

9 December 2022

6

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1991.TB03000.X

Brief clinical report: familial neonatally lethal syndrome of hypoplastic left heart, absent pulmonary lobation, polydactyly, and talipes, probably Smith-Lemli-Opitz (RSH) syndrome

9 December 2022

8

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1991.TB03000.X

Ocular Manifestations of the Smith-Lemli-Opitz Syndrome

9 December 2022

9

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1991.TB03000.X

Hirschsprung disease in a 46,XY phenotypic infant girl with Smith-Lemli-Opitz syndrome

9 December 2022

11

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1991.TB03000.X

A "new" lethal multiple congenital anomaly syndrome: joint contractures, cerebellar hypoplasia, renal hypoplasia, urogenital anomalies, tongue cysts, shortness of limbs, eye abnormalities, defects of the heart, gallbladder agenesis, and ear malforma

9 December 2022

13

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1991.TB03000.X

A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

9 December 2022

14

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1991.TB03000.X

9 December 2022

Identifiers

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1849804

9 December 2022

1 reference