Kniest syndrome with dominant inheritance and mucopolysacchariduria

H. J. Kim; N. G. Beratis; P. Brill; E. Raab; K. Hirschhorn; R. Matalon

Kniest syndrome with dominant inheritance and mucopolysacchariduria

H. J. Kim, N. G. Beratis, P. Brill, E. Raab, K. Hirschhorn, R. Matalon

Research output: Contribution to journal › Article › peer-review

Abstract

A mother and daughter with clinical and radiographic findings typical of the Kniest syndrome are reported. It is apparent that is dominantly inherited and that sporadic cases may represent fresh mutations. Abnormally high keratan sulfate excretion was found, indicating that the Kniest syndrome is a mucopolysacchariduria.

Original language	English (US)
Pages (from-to)	755-764
Number of pages	10
Journal	American Journal of Human Genetics
Volume	27
Issue number	6
State	Published - 1975
Externally published	Yes

ASJC Scopus subject areas

Genetics
Genetics(clinical)

Cite this

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title = "Kniest syndrome with dominant inheritance and mucopolysacchariduria",

abstract = "A mother and daughter with clinical and radiographic findings typical of the Kniest syndrome are reported. It is apparent that is dominantly inherited and that sporadic cases may represent fresh mutations. Abnormally high keratan sulfate excretion was found, indicating that the Kniest syndrome is a mucopolysacchariduria.",

author = "Kim, {H. J.} and Beratis, {N. G.} and P. Brill and E. Raab and K. Hirschhorn and R. Matalon",

year = "1975",

language = "English (US)",

volume = "27",

pages = "755--764",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

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T1 - Kniest syndrome with dominant inheritance and mucopolysacchariduria

AU - Kim, H. J.

AU - Beratis, N. G.

AU - Brill, P.

AU - Raab, E.

AU - Hirschhorn, K.

AU - Matalon, R.

PY - 1975

Y1 - 1975

N2 - A mother and daughter with clinical and radiographic findings typical of the Kniest syndrome are reported. It is apparent that is dominantly inherited and that sporadic cases may represent fresh mutations. Abnormally high keratan sulfate excretion was found, indicating that the Kniest syndrome is a mucopolysacchariduria.

AB - A mother and daughter with clinical and radiographic findings typical of the Kniest syndrome are reported. It is apparent that is dominantly inherited and that sporadic cases may represent fresh mutations. Abnormally high keratan sulfate excretion was found, indicating that the Kniest syndrome is a mucopolysacchariduria.

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M3 - Article

C2 - 128291

AN - SCOPUS:0016777351

SN - 0002-9297

VL - 27

SP - 755

EP - 764

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 6

ER -

Kniest syndrome with dominant inheritance and mucopolysacchariduria

Abstract

ASJC Scopus subject areas

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