Severe growth retardation, delayed bone age, and facial dysmorphism in two patients with microduplications in 2p16→p22

American Journal of Medical Genetics, Part A

Volumn 161, Issue 12, 2013, Pages 3176-3181

  Blassnig Ezeh, Anya ^a   Bandelier, Claude ^b   Frühmesser, Anne ^c   Revencu, Nicole ^b   Krabichler, Birgit ^c   Beauloye, Véronique ^b   Ravoet, Marie ^b   Fauth, Christine ^c   Zschocke, Johannes ^c   Simma, Burkhard ^a   Kotzot, Dieter ^c  

^a Landeskrankenhaus Feldkirch   (Austria)

^b CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^c INNSBRUCK MEDICAL UNIVERSITY   (Austria)

Author keywords

Chromosomal rearrangements; Delayed bone age; Growth retardation; Microduplication 2p

Indexed keywords

HUMAN GROWTH HORMONE; OMEPRAZOLE; SOMATOMEDIN BINDING PROTEIN 3; SOMATOMEDIN C;

ABNORMAL BEHAVIOR; ANTERIOR FONTANEL; ARTICLE; BONE AGE; CASE REPORT; CHILD; CHROMOSOME 2P; CHROMOSOME DUPLICATION; DEVELOPMENTAL DISORDER; DIAPHRAGM HERNIA; EYEBROW; FACE DYSMORPHIA; FEEDING DIFFICULTY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FOLLOW UP; FOREHEAD; GASTROESOPHAGEAL REFLUX; GROWTH RETARDATION; HUMAN; HYPERTELORISM; HYPOTROPHY; INFANT; LORDOSIS; MACROCEPHALY; MALE; MUSCLE HYPOTONIA; NEWBORN; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SHORT STATURE; SINGLE NUCLEOTIDE POLYMORPHISM; SMALL FOR DATE INFANT;

CHROMOSOMAL REARRANGEMENTS; DELAYED BONE AGE; GROWTH RETARDATION; MICRODUPLICATION 2P;

BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTORS; CHILD; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 2; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; FEMALE; HUMANS; INTELLECTUAL DISABILITY; MALE; RHO GTP-BINDING PROTEINS;

EID: 84888017875     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36176     Document Type: Article

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