The Sabinas syndrome

R. Howell, A. I. Arbisser, D. S. Parsons, C. I. Scott, U. Fraustadt, W. R. Collie, R. N. Marshall, O. C. Ibarra

Research output: Contribution to journalArticle

13 Citations (Scopus)

Abstract

The authors defined a new autosomal recessive disorder in patients stemming from a small community in northern Mexico. Diagnosable at birth, its major symptoms include brittle hair, mental retardation, and nail dysplasia. Structural hair abnormalities are seen by both light and electron microscopy. Hair cystine content is reduced while the copper/zinc ratio in hair is increased.

Original languageEnglish
Pages (from-to)957-967
Number of pages11
JournalAmerican Journal of Human Genetics
Volume33
Issue number6
StatePublished - Dec 1 1981
Externally publishedYes

Fingerprint

Hair
Cystine
Nails
Mexico
Intellectual Disability
Zinc
Copper
Electron Microscopy
Parturition
Light
Sabinas brittle hair syndrome

ASJC Scopus subject areas

  • Genetics

Cite this

Howell, R., Arbisser, A. I., Parsons, D. S., Scott, C. I., Fraustadt, U., Collie, W. R., ... Ibarra, O. C. (1981). The Sabinas syndrome. American Journal of Human Genetics, 33(6), 957-967.

The Sabinas syndrome. / Howell, R.; Arbisser, A. I.; Parsons, D. S.; Scott, C. I.; Fraustadt, U.; Collie, W. R.; Marshall, R. N.; Ibarra, O. C.

In: American Journal of Human Genetics, Vol. 33, No. 6, 01.12.1981, p. 957-967.

Research output: Contribution to journalArticle

Howell, R, Arbisser, AI, Parsons, DS, Scott, CI, Fraustadt, U, Collie, WR, Marshall, RN & Ibarra, OC 1981, 'The Sabinas syndrome', American Journal of Human Genetics, vol. 33, no. 6, pp. 957-967.
Howell R, Arbisser AI, Parsons DS, Scott CI, Fraustadt U, Collie WR et al. The Sabinas syndrome. American Journal of Human Genetics. 1981 Dec 1;33(6):957-967.
Howell, R. ; Arbisser, A. I. ; Parsons, D. S. ; Scott, C. I. ; Fraustadt, U. ; Collie, W. R. ; Marshall, R. N. ; Ibarra, O. C. / The Sabinas syndrome. In: American Journal of Human Genetics. 1981 ; Vol. 33, No. 6. pp. 957-967.
@article{ad9f6323e9b744018a9917982f03ebc7,
title = "The Sabinas syndrome",
abstract = "The authors defined a new autosomal recessive disorder in patients stemming from a small community in northern Mexico. Diagnosable at birth, its major symptoms include brittle hair, mental retardation, and nail dysplasia. Structural hair abnormalities are seen by both light and electron microscopy. Hair cystine content is reduced while the copper/zinc ratio in hair is increased.",
author = "R. Howell and Arbisser, {A. I.} and Parsons, {D. S.} and Scott, {C. I.} and U. Fraustadt and Collie, {W. R.} and Marshall, {R. N.} and Ibarra, {O. C.}",
year = "1981",
month = "12",
day = "1",
language = "English",
volume = "33",
pages = "957--967",
journal = "American Journal of Human Genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "6",

}

TY - JOUR

T1 - The Sabinas syndrome

AU - Howell, R.

AU - Arbisser, A. I.

AU - Parsons, D. S.

AU - Scott, C. I.

AU - Fraustadt, U.

AU - Collie, W. R.

AU - Marshall, R. N.

AU - Ibarra, O. C.

PY - 1981/12/1

Y1 - 1981/12/1

N2 - The authors defined a new autosomal recessive disorder in patients stemming from a small community in northern Mexico. Diagnosable at birth, its major symptoms include brittle hair, mental retardation, and nail dysplasia. Structural hair abnormalities are seen by both light and electron microscopy. Hair cystine content is reduced while the copper/zinc ratio in hair is increased.

AB - The authors defined a new autosomal recessive disorder in patients stemming from a small community in northern Mexico. Diagnosable at birth, its major symptoms include brittle hair, mental retardation, and nail dysplasia. Structural hair abnormalities are seen by both light and electron microscopy. Hair cystine content is reduced while the copper/zinc ratio in hair is increased.

UR - http://www.scopus.com/inward/record.url?scp=0019790212&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0019790212&partnerID=8YFLogxK

M3 - Article

C2 - 7325159

AN - SCOPUS:0019790212

VL - 33

SP - 957

EP - 967

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 6

ER -