LEADER 05600nam 2200673 450 001 9910822414203321 005 20200520144314.0 010 $a0-19-997524-8 010 $a0-19-981186-5 035 $a(CKB)2550000001126225 035 $a(EBL)1480999 035 $a(OCoLC)861559204 035 $a(SSID)ssj0000822805 035 $a(PQKBManifestationID)11974618 035 $a(PQKBTitleCode)TC0000822805 035 $a(PQKBWorkID)10761530 035 $a(PQKB)11122385 035 $a(MiAaPQ)EBC1480999 035 $a(StDuBDS)EDZ0000105579 035 $a(Au-PeEL)EBL1480999 035 $a(CaPaEBR)ebr10774707 035 $a(CaONFJC)MIL526888 035 $a(EXLCZ)992550000001126225 100 $a20110608h20122012 uy| 0 101 0 $aeng 135 $aur|n|---||||| 181 $ctxt 182 $cc 183 $acr 200 10$aAtlas of X-linked intellectual disability syndromes /$fRoger E. Stevenson, Charles E. Schwartz, and R. Curtis Rogers 205 $aSecond edition. 210 1$aNew York :$cOxford University Press,$d[2012] 210 4$dİ2012 215 $a1 online resource (363 p.) 300 $aRev. edition of: X-linked mental retardation / Roger E. Stevenson, Charles E. Schwartz, Richard J. Schroer. 2000. 311 $a0-19-981179-2 311 $a1-299-95637-8 320 $aIncludes bibliographical references and index. 327 $aCover; TABLE OF CONTENTS; FOREWORD; PREFACE; AARSKOG SYNDROME; ABIDI SYNDROME; ADRENOLEUKODYSTROPHY; AGENESIS OF THE CORPUS CALLOSUM, X-LINKED; AHMAD SYNDROME; AICARDI SYNDROME; ALLAN-HERNDON-DUDLEY SYNDROME; ALPHA-THALASSEMIA INTELLECTUAL DISABILITY (SEE ALSO ATRX-ASSOCIATED XLID); AP1S2-ASSOCIATED XLID; APAK ATAXIA-SPASTIC DIPLEGIA SYNDROME; ARMFIELD SYNDROME; ARTS SYNDROME; ARX-ASSOCIATED XLID; ATAXIA-DEAFNESS-DEMENTIA, X-LINKED; ATKIN-FLAITZ SYNDROME; ATRX-ASSOCIATED XLID; BERGIA CARDIOMYOPATHY; BERTINI SYNDROME; BO?RJESON-FORSSMAN-LEHMANN SYNDROME; BRANCHIAL ARCH SYNDROME, X-LINKED 327 $aCANTU SYNDROMECARPENTER-WAZIRI SYNDROME (SEE ALSO ATRX-ASSOCIATED XLID); CEREBRO-CEREBELLO-COLOBOMA SYNDROME; CEREBRO-OCULO-GENITAL SYNDROME; CEREBRO-PALATO-CARDIAC SYNDROME (SEE ALSO RENPENNING SYNDROME); CHARCOT-MARIE-TOOTH NEUROPATHY, COWCHOCK VARIANT; CHARCOT-MARIE-TOOTH NEUROPATHY, IONASESCU VARIANT; CHASSAING-LACOMBE CHONDRODYSPLASIA; CHRISTIAN SYNDROME; CHRISTIANSON SYNDROME; CHUDLEY-LOWRY SYNDROME (SEE ALSO ATRX-ASSOCIATED XLID); CK SYNDROME; CLARK-BARAITSER SYNDROME; COFFIN-LOWRY SYNDROME; CORNELIA DE LANGE SYNDROME, X-LINKED; CRANIOFACIOSKELETAL SYNDROME 327 $aCREATINE TRANSPORTER DEFICIENCYDUCHENNE MUSCULAR DYSTROPHY; DYSKERATOSIS CONGENITA; EPILEPSY-INTELLECTUAL DISABILITY IN FEMALES (EIDF); FITZSIMMONS SYNDROME; FLNA-ASSOCIATED XLID; FRAGILE X SYNDROME; GIUFFRE?-TSUKAHARA SYNDROME; GLYCEROL KINASE DEFICIENCY; GOLABI-ITO-HALL SYNDROME: (SEE ALSO RENPENNING SYNDROME); GOLDBLATT SPASTIC PARAPLEGIA SYNDROME; GOLTZ SYNDROME; GRAHAM ANOPHTHALMIA SYNDROME; GUSTAVSON SYNDROME; HALL OROFACIAL SYNDROME; HEREDITARY BULLOUS DYSTROPHY, X-LINKED; HOLMES-GANG SYNDROME (SEE ALSO ATRX-ASSOCIATED XLID); HOMFRAY SEIZURES-CONTRACTURES; HYDE-FORSTER SYNDROME 327 $aHYDRANENCEPHALY WITH ABNORMAL GENITALIA (SEE ALSO ARX-ASSOCIATED XLID)HYDROCEPHALY-CEREBELLAR AGENESIS SYNDROME; HYDROCEPHALY-MASA SPECTRUM; HYPOPARATHYROIDISM, X-LINKED; INCONTINENTIA PIGMENTI; JUBERG-MARSIDI-BROOKS SYNDROME; KANG SYNDROME; LENZ MICROPHTHALMIA SYNDROME; LESCH-NYHAN SYNDROME; LISSENCEPHALY AND ABNORMAL GENITALIA, X-LINKED (SEE ALSO ARX-ASSOCIATED XLID); LISSENCEPHALY, X-LINKED; LOWE SYNDROME; LUJAN SYNDROME; MARTIN-PROBST SYNDROME; MEHMO SYNDROME; MENKES SYNDROME; MIDAS SYNDROME; MILES-CARPENTER SYNDROME; MOHR-TRANEBJAERG SYNDROME; MONOAMINE OXIDASE-A DEFICIENCY 327 $aMUCOPOLYSACCHARIDOSIS IIAMYOTUBULAR MYOPATHY; N-ALPHA-ACETYLTRANSFERASE DEFICIENCY; NANCE-HORAN SYNDROME; NORRIE DISEASE; OPITZ FG SYNDROME; OPTIC ATROPHY, X-LINKED; ORAL-FACIAL-DIGITAL SYNDROME I; ORNITHINE TRANSCARBAMOYLASE DEFICIENCY; OTOPALATODIGITAL SYNDROME I (SEE ALSO FLNA-ASSOCIATED XLID); OTOPALATODIGITAL SYNDROME II (SEE ALSO FLNA-ASSOCIATED XLID); PAINE SYNDROME; PALLISTER W SYNDROME; PARTINGTON SYNDROME (SEE ALSO ARX-ASSOCIATED XLID); PELIZAEUS-MERZBACHER SYNDROME; PERIVENTRICULAR NODULAR HETEROTOPIA (SEE ALSO FLNA-ASSOCIATED XLID); PETTIGREW SYNDROME 327 $aPHOSPHOGLYCERATE KINASE DEFICIENCY 330 $aThe Atlas of X-Linked Intellectual Disability Syndromes is a comprehensive and up-to-date summary of the clinically distinctive disorders caused by genes on the X chromosome. Clinical and laboratory data on 150 syndromes are presented in a concise and consistent manner. Each syndrome is defined and information is provided on somatic features, growth and development, neurological signs, cognitive performance, imaging and other laboratory findings, and when possible, the nature and localization of the responsible gene. Craniofacial and other somatic findings are extensively illustrated. A differ 606 $aX-linked mental retardation$vAtlases 615 0$aX-linked mental retardation 676 $a616.85/88042 700 $aStevenson$b Roger E.$f1940-$01638275 701 $aSchwartz$b Charles E$0238643 701 $aRogers$b R. Curtis$g(Richard Curtis),$f1953-$01638276 701 $aStevenson$b Roger E.$f1940-$01638275 801 0$bMiAaPQ 801 1$bMiAaPQ 801 2$bMiAaPQ 906 $aBOOK 912 $a9910822414203321 996 $aAtlas of X-linked intellectual disability syndromes$93980567 997 $aUNINA