A familial syndrome characterized by peculiar facies, small stature, chromosomal aberrations and aminoaciduria

H. T. Lynch; W. Reed; G. M. Mulcahy; A. J. Frush; R. A. Sweet; A. Kaplan; G. Villacorte

A familial syndrome characterized by peculiar facies, small stature, chromosomal aberrations and aminoaciduria

H. T. Lynch, W. Reed, G. M. Mulcahy, A. J. Frush, R. A. Sweet, A. Kaplan, G. Villacorte

Department of Preventive Medicine

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

1 Scopus citations

Abstract

The female patient presented in this study is the third of four children in a family of Dutch ancestry. A small part of this family is remarkable because a number of its members are affected by several gene transmitted disorders, and increased occurrences of unusual tumors, which may give rise to chromosomal anomalies (characterized by short stature, peculiar facies, joint limitation, and genu valgum).

Original language	English (US)
Pages (from-to)	35-51
Number of pages	17
Journal	Birth Defects: Original Article Series
Volume	10
Issue number	8
State	Published - Dec 1 1974

All Science Journal Classification (ASJC) codes

Developmental Biology
Genetics(clinical)

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title = "A familial syndrome characterized by peculiar facies, small stature, chromosomal aberrations and aminoaciduria",

abstract = "The female patient presented in this study is the third of four children in a family of Dutch ancestry. A small part of this family is remarkable because a number of its members are affected by several gene transmitted disorders, and increased occurrences of unusual tumors, which may give rise to chromosomal anomalies (characterized by short stature, peculiar facies, joint limitation, and genu valgum).",

author = "Lynch, {H. T.} and W. Reed and Mulcahy, {G. M.} and Frush, {A. J.} and Sweet, {R. A.} and A. Kaplan and G. Villacorte",

year = "1974",

month = dec,

day = "1",

language = "English (US)",

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journal = "Birth Defects: Original Article Series",

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publisher = "March of Dimes Birth Defects Foundation",

number = "8",

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T1 - A familial syndrome characterized by peculiar facies, small stature, chromosomal aberrations and aminoaciduria

AU - Lynch, H. T.

AU - Reed, W.

AU - Mulcahy, G. M.

AU - Frush, A. J.

AU - Sweet, R. A.

AU - Kaplan, A.

AU - Villacorte, G.

PY - 1974/12/1

Y1 - 1974/12/1

N2 - The female patient presented in this study is the third of four children in a family of Dutch ancestry. A small part of this family is remarkable because a number of its members are affected by several gene transmitted disorders, and increased occurrences of unusual tumors, which may give rise to chromosomal anomalies (characterized by short stature, peculiar facies, joint limitation, and genu valgum).

AB - The female patient presented in this study is the third of four children in a family of Dutch ancestry. A small part of this family is remarkable because a number of its members are affected by several gene transmitted disorders, and increased occurrences of unusual tumors, which may give rise to chromosomal anomalies (characterized by short stature, peculiar facies, joint limitation, and genu valgum).

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C2 - 4376428

AN - SCOPUS:0016213567

VL - 10

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EP - 51

JO - Birth Defects: Original Article Series

JF - Birth Defects: Original Article Series

SN - 0547-6844

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