Publication:

An autosomal dominant form of hereditary hypotrichosis simplex maps to 18p11.32–p11.23 in an Italian family

Date

Date

Date
2000
Journal Article
Published version

Citations

Citation copied

Baumer Wolz, A., Belli, S., Trüeb, R. M., & Schinzel, A. (2000). An autosomal dominant form of hereditary hypotrichosis simplex maps to 18p11.32–p11.23 in an Italian family. European Journal of Human Genetics, 8(6), 443–448. https://doi.org/10.1038/sj.ejhg.5200506

Abstract

Abstract

Abstract

We report on a three-generation Italian family with dominant transmission of a form of hereditary hypotrichosis simplex (HHS). The nine affected adults presented with sparse, thin and short hair. Somewhat less sparse and longer hair was observed in the two affected young children in the third generation. Reduced hair growth affected the scalp and body, although normal eyelashes, eyebrows and growth of men's beards were observed. No associated abnormality was detected and the overall psychomotor development of the affected individuals

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1 since deposited on 2023-04-18
Acq. date: 2025-11-14

Additional indexing

Creators (Authors)

Journal/Series Title

Journal/Series Title

Journal/Series Title

Volume

Volume

Volume
8

Number

Number

Number
6

Page range/Item number

Page range/Item number

Page range/Item number
443

Page end

Page end

Page end
448

Item Type

Item Type

Item Type
Journal Article

Dewey Decimal Classifikation

Dewey Decimal Classifikation

Dewey Decimal Classifikation

Keywords

Genetics (clinical), Genetics, hereditary hypotrichosis simplex, isolated hair abnormality, autosomal dominant, Chromosome locus 18p11.32–p11.23

Language

Language

Language
English

Publication date

Publication date

Publication date
2000-06-01

Date available

Date available

Date available
2023-04-18

Publisher

Publisher

Publisher

ISSN or e-ISSN

ISSN or e-ISSN

ISSN or e-ISSN
1018-4813

OA Status

OA Status

OA Status
Closed

Free Access at

Free Access at

Free Access at
Unspecified

PubMed ID

PubMed ID

PubMed ID

Metrics

Views

1 since deposited on 2023-04-18
Acq. date: 2025-11-14

Citations

Citation copied

Baumer Wolz, A., Belli, S., Trüeb, R. M., & Schinzel, A. (2000). An autosomal dominant form of hereditary hypotrichosis simplex maps to 18p11.32–p11.23 in an Italian family. European Journal of Human Genetics, 8(6), 443–448. https://doi.org/10.1038/sj.ejhg.5200506

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