Sams, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in goosecoid

American Journal of Human Genetics

Volumn 93, Issue 6, 2013, Pages 1135-1142

  Parry, David A ^a   Logan, Clare V ^a   Stegmann, Alexander P A ^b   Abdelhamed, Zakia A ^a,c   Calder, Alistair ^d   Khan, Shabana ^a   Bonthron, David T ^a,e   Clowes, Virginia ^f   Sheridan, Eamonn ^a,e   Ghali, Neeti ^f   Chudley, Albert E ^g   Dobbie, Angus ^e   Stumpel, Constance T R M ^b   Johnson, Colin A ^a  

^a UNIVERSITY OF LEEDS   (United Kingdom)

^b MAASTRICHT UNIVERSITY   (Netherlands)

^c AL AZHAR UNIVERSITY   (Egypt)

^d GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^e CHAPEL ALLERTON HOSPITAL   (United Kingdom)

^f NORTHWICK PARK HOSPITAL   (United Kingdom)

^g UNIVERSITY OF MANITOBA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; GOOSECOID PROTEIN;

ARTICLE; ATRESIA; AUDITORY CANAL; AUDITORY OSSICLE; BRAIN STEM RESPONSE; CASE REPORT; CELL FATE; CHILD; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONTRACTURE; CONTROLLED STUDY; CRYPTORCHISM; DROSOPHILA; EXTERNAL AUDITORY CANAL; FEEDING DIFFICULTY; GASTRULA; GENE DOSAGE; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; GESTATIONAL AGE; HEAD CIRCUMFERENCE; HETEROZYGOSITY LOSS; HUMAN; HYPOPLASIA; INFANT; INNER EAR MALFORMATION; INTERNAL AUDITORY CANAL; KARYOTYPING; MALE; MALFORMATION SYNDROME; MANDIBLE HYPOPLASIA; MESODERM; MICROGNATHIA; MICROPHTHALMIA; MOLECULAR GENETICS; NASOGASTRIC TUBE; NEURAL CREST CELL; NOSE FEEDING; PHENOTYPE; PRIORITY JOURNAL; RESPIRATORY FAILURE; SEGREGATION ANALYSIS; SHORT STATURE; SHORT STATURE AUDITORY CANAL ATRESIA MANDIBULAR HYPOPLASIA AND SKELETAL ABNORMALITY SYNDROME; SKELETON MALFORMATION; SYNOSTOSIS; TRACHEOSTOMY; UROGENITAL TRACT MALFORMATION; XENOPUS;

ABNORMALITIES, MULTIPLE; ADULT; ANIMALS; BONE AND BONES; CHILD; DNA MUTATIONAL ANALYSIS; DWARFISM; EAR CANAL; FEMALE; GENETIC ASSOCIATION STUDIES; GOOSECOID PROTEIN; HOMOZYGOTE; HUMANS; MALE; MANDIBLE; MICE; MUTATION; PEDIGREE; PHENOTYPE; SYNDROME; YOUNG ADULT;

MAMMALIA;

EID: 84890311160     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.10.027     Document Type: Article

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