Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort

Genetics in Medicine

Volumn 18, Issue 7, 2016, Pages 686-695

  Shaheen, Ranad ^a   Patel, Nisha ^a   Shamseldin, Hanan ^a   Alzahrani, Fatema ^a   Al Yamany, Ruah ^a   Almoisheer, Agaadir ^a   Ewida, Nour ^a   Anazi, Shamsa ^a   Alnemer, Maha ^a   Elsheikh, Mohamed ^b   Alfaleh, Khaled ^b,c   Alshammari, Muneera ^c   Alhashem, Amal ^d   Alangari, Abdullah A ^c   Salih, Mustafa A ^c   Kircher, Martin ^e   Daza, Riza M ^e   Ibrahim, Niema ^a   Wakil, Salma M ^a   Alaqeel, Ahmed ^c   Altowaijri, Ikhlas ^c   Shendure, Jay ^e   Al Habib, Amro ^c   Faqieh, Eissa ^f   Alkuraya, Fowzan S ^a,g   more..

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b Suliman AlHabib Hospital ^*  (Saudi Arabia)

^c KING SAUD UNIVERSITY   (Saudi Arabia)

^d The General Directorate of Armed Forces Health Services   (Saudi Arabia)

^e UNIVERSITY OF WASHINGTON   (United States)

^f KING FAHAD MEDICAL CITY   (Saudi Arabia)

^g ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

ambiguous genitalia; CHARGE; hypoglycemia; microcephaly; skeletal dysplasia

Indexed keywords

ACCESSORY SPLEEN; AGYRIA; AMBIGUOUS GENITALIA; ANHIDROSIS; ARTHROGRYPOSIS; ARTICLE; ASTHMA; ATAXIA; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; BONE DYSPLASIA; BRACHYCEPHALY; BRAIN ATROPHY; BRAIN CALCIFICATION; C3ORF17 GENE; CACNA1H GENE; CADPS GENE; CATARACT; CDK9 GENE; CEREBELLUM HYPOPLASIA; CLEFT LIP; CLEFT PALATE; CLINICAL EVALUATION; CLINICAL GENETICS; CLUBFOOT; COHORT ANALYSIS; COLOBOMA; CONGENITAL HEART DISEASE; CONSANGUINEOUS MARRIAGE; CORPUS CALLOSUM AGENESIS; CRANIOFACIAL SYNOSTOSIS; CTU2 GENE; DEVELOPMENTAL DISORDER; DWARFISM; EPILEPSY; EXOME; EXOPHTHALMOS; FACE DYSMORPHIA; FAILURE TO THRIVE; FAMILY HISTORY; GAZE PARALYSIS; GENE; GENE SEQUENCE; GENETIC VARIABILITY; GENITAL MALFORMATION; GENOMICS; HEPATOMEGALY; HERNIA; HIGH MYOPIA; HIRSUTISM; HOLOPROSENCEPHALY; HUMAN; HYAL2 GENE; HYPERTELORISM; HYPOGLYCEMIA; INHERITANCE; INTELLECTUAL IMPAIRMENT; JOINT LAXITY; KIDNEY FAILURE; KIDNEY MALFORMATION; KIDNEY POLYCYSTIC DISEASE; KLIPPEL FEIL SYNDROME; LENS LUXATION; LIVER CYST; MACROCEPHALY; MBL2 GENE; MICROCEPHALY; MICROPENIS; MOLECULAR DIAGNOSIS; MUSCLE HYPOTONIA; MYOPATHY; MYOPIA; NEK9 GENE; OBESITY; OSTEOPENIA; PEDIGREE ANALYSIS; PERTHES DISEASE; PHENOTYPE; PTERYGIUM; PTOSIS; PULMONARY VALVE ATRESIA; PULMONARY VALVE STENOSIS; PYLORUS STENOSIS; RADIUS APLASIA; RETINA DYSTROPHY; SHORT STATURE; SKELETON MALFORMATION; SOLITARY KIDNEY; SUBLUXATION; SYNDACTYLY; TERATOLOGY; TTC28 GENE; ZNF668 GENE; ABNORMALITIES, MULTIPLE; CONSANGUINITY; DISORDERS OF SEX DEVELOPMENT; DNA SEQUENCE; FEMALE; GENETICS; HIGH THROUGHPUT SEQUENCING; MALE; MUTATION; PATHOPHYSIOLOGY; PEDIGREE; PROCEDURES;

ABNORMALITIES, MULTIPLE; CONSANGUINITY; DISORDERS OF SEX DEVELOPMENT; EXOME; FEMALE; GENOMICS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; HYPOGLYCEMIA; MALE; MICROCEPHALY; MUTATION; PEDIGREE; PHENOTYPE; SEQUENCE ANALYSIS, DNA;

EID: 84977137963     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2015.147     Document Type: Article

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