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,Emery’s Elements of Medical
Genetics and Genomics
,Emery’s Elements of Medical
Genetics and Genomics
EDITION: 16
https://t.me/genetics_centre
Peter D. Turnpenny BSc MB ChB FRCP FRCPCH FRCPath FHEA
Consultant Clinical Geneticist,
Royal Devon and Exeter NHS Foundation Trust,
and
Professor in Clinical Genomics,
University of Exeter Medical School
Sian Ellard OBE BSc PhD FRCPath
Consultant Clinical Scientist,
Royal Devon and Exeter NHS Foundation Trust,
and
Professor of Genomic Medicine,
University of Exeter Medical School
Ruth Cleaver BSc MB ChB PGCert MRCP
Consultant Clinical Geneticist,
Royal Devon and Exeter NHS Foundation Trust
, EMERY’S ELEMENTS OF MEDICAL GENETICS AND ISBN: 978-0-702-079665
GENOMICS, EDITION: 16
Copyright © 2022 by Elsevier, Ltd. All rights reserved.
No part of this publication may be reproduced or transmitted in any form or by any means, electronic
or mechanical, including photocopying, recording, or any information storage and retrieval system,
without permission in writing from the publisher. Details on how to seek permission, further
information about the Publisher’s permissions policies and our arrangements with organizations such
as the Copyright Clearance Center and the Copyright Licensing Agency, can be found at our website:
www.elsevier.com/permissions.
This book and the individual contributions contained in it are protected under copyright by the
Publisher (other than as may be noted herein).
https://t.me/genetics_centre
Notice
Practitioners and researchers must always rely on their own experience and knowledge in
evaluating and using any information, methods, compounds or experiments described
herein. Because of rapid advances in the medical sciences, in particular, independent verification of
diagnoses and drug dosages should be made. To the fullest extent of the law, no responsibility is
assumed by Elsevier, authors, editors or contributors for any injury and/or damage to persons or
property as a matter of products liability, negligence or otherwise, or from any use or operation of
any methods, products, instructions, or ideas contained in the material herein.
Previous editions copyrighted 2017, 2012, 2007, 2005, 2001, 1998, 1995, 1992, 1988, 1983, 1979,
1975, 1974, 1971, 1968.
Library of Congress Control Number 2020941978
Content Strategist: Alexandra Mortimer
Content Development Specialist: Deborah Poulson
Publishing Services Manager: Shereen Jameel
Project Manager: Rukmani Krishnan
Design Direction: Amy Buxton
Printed in Poland
Last digit is the print number: 9 8 7 6 5 4 3 2 1
https://t.me/genetics_centre
,Emery’s Elements of Medical
Genetics and Genomics
,Emery’s Elements of Medical
Genetics and Genomics
EDITION: 16
https://t.me/genetics_centre
Peter D. Turnpenny BSc MB ChB FRCP FRCPCH FRCPath FHEA
Consultant Clinical Geneticist,
Royal Devon and Exeter NHS Foundation Trust,
and
Professor in Clinical Genomics,
University of Exeter Medical School
Sian Ellard OBE BSc PhD FRCPath
Consultant Clinical Scientist,
Royal Devon and Exeter NHS Foundation Trust,
and
Professor of Genomic Medicine,
University of Exeter Medical School
Ruth Cleaver BSc MB ChB PGCert MRCP
Consultant Clinical Geneticist,
Royal Devon and Exeter NHS Foundation Trust
, EMERY’S ELEMENTS OF MEDICAL GENETICS AND ISBN: 978-0-702-079665
GENOMICS, EDITION: 16
Copyright © 2022 by Elsevier, Ltd. All rights reserved.
No part of this publication may be reproduced or transmitted in any form or by any means, electronic
or mechanical, including photocopying, recording, or any information storage and retrieval system,
without permission in writing from the publisher. Details on how to seek permission, further
information about the Publisher’s permissions policies and our arrangements with organizations such
as the Copyright Clearance Center and the Copyright Licensing Agency, can be found at our website:
www.elsevier.com/permissions.
This book and the individual contributions contained in it are protected under copyright by the
Publisher (other than as may be noted herein).
https://t.me/genetics_centre
Notice
Practitioners and researchers must always rely on their own experience and knowledge in
evaluating and using any information, methods, compounds or experiments described
herein. Because of rapid advances in the medical sciences, in particular, independent verification of
diagnoses and drug dosages should be made. To the fullest extent of the law, no responsibility is
assumed by Elsevier, authors, editors or contributors for any injury and/or damage to persons or
property as a matter of products liability, negligence or otherwise, or from any use or operation of
any methods, products, instructions, or ideas contained in the material herein.
Previous editions copyrighted 2017, 2012, 2007, 2005, 2001, 1998, 1995, 1992, 1988, 1983, 1979,
1975, 1974, 1971, 1968.
Library of Congress Control Number 2020941978
Content Strategist: Alexandra Mortimer
Content Development Specialist: Deborah Poulson
Publishing Services Manager: Shereen Jameel
Project Manager: Rukmani Krishnan
Design Direction: Amy Buxton
Printed in Poland
Last digit is the print number: 9 8 7 6 5 4 3 2 1
