Genetic heterogeneity in Rieger eye malformation

E. LEGIUS; C. E. de Die-Smulders; F. Verbraak; H. HABEX; R. DECORTE; P. MARYNEN; J. P. Fryns; J. J. Cassiman

doi:https://doi.org/10.1136/jmg.31.4.340

Genetic heterogeneity in Rieger eye malformation

E. LEGIUS, C. E. de Die-Smulders, F. Verbraak, H. HABEX, R. DECORTE, P. MARYNEN, J. P. Fryns, J. J. Cassiman

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Research output: Contribution to journal › Comment/Letter to the editor › Academic

23 Citations (Scopus)

Abstract

A three generation family with Rieger eye malformation sequence is described. No other abnormalities were present apart from the eye malformation. Linkage to EGF and D4S193 localised in 4q25 was excluded and this indicates that Rieger eye malformation is genetically different from typical Rieger syndrome with teeth and umbilical anomalies

Original language	English
Pages (from-to)	340-341
Journal	Journal of medical genetics
Volume	31
Issue number	4
DOIs	https://doi.org/10.1136/jmg.31.4.340
Publication status	Published - 1994

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https://doi.org/10.1136/jmg.31.4.340

Cite this

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title = "Genetic heterogeneity in Rieger eye malformation",

abstract = "A three generation family with Rieger eye malformation sequence is described. No other abnormalities were present apart from the eye malformation. Linkage to EGF and D4S193 localised in 4q25 was excluded and this indicates that Rieger eye malformation is genetically different from typical Rieger syndrome with teeth and umbilical anomalies",

author = "E. LEGIUS and {de Die-Smulders}, {C. E.} and F. Verbraak and H. HABEX and R. DECORTE and P. MARYNEN and Fryns, {J. P.} and Cassiman, {J. J.}",

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T1 - Genetic heterogeneity in Rieger eye malformation

AU - LEGIUS, E.

AU - de Die-Smulders, C. E.

AU - Verbraak, F.

AU - HABEX, H.

AU - DECORTE, R.

AU - MARYNEN, P.

AU - Fryns, J. P.

AU - Cassiman, J. J.

PY - 1994

Y1 - 1994

N2 - A three generation family with Rieger eye malformation sequence is described. No other abnormalities were present apart from the eye malformation. Linkage to EGF and D4S193 localised in 4q25 was excluded and this indicates that Rieger eye malformation is genetically different from typical Rieger syndrome with teeth and umbilical anomalies

AB - A three generation family with Rieger eye malformation sequence is described. No other abnormalities were present apart from the eye malformation. Linkage to EGF and D4S193 localised in 4q25 was excluded and this indicates that Rieger eye malformation is genetically different from typical Rieger syndrome with teeth and umbilical anomalies

U2 - https://doi.org/10.1136/jmg.31.4.340

DO - https://doi.org/10.1136/jmg.31.4.340

M3 - Comment/Letter to the editor

C2 - 8071964

SN - 0022-2593

VL - 31

SP - 340

EP - 341

JO - Journal of medical genetics

JF - Journal of medical genetics

IS - 4

ER -