Expanding the phenotype of alopecia-contractures-dwarfism mental retardation syndrome (ACD syndrome): Description of an additional case and review of the literature

European Journal of Pediatrics

Volumn 167, Issue 9, 2008, Pages 1057-1062

  Schell Apacik, Chayim ^a   Hardt, Michael ^a   Ertl Wagner, Birgit ^b   Klopocki, Eva ^c   Möhrenschlager, Matthias ^d   Heinrich, Uwe ^e   Von Voss, Hubertus ^a  

^a UNIVERSITY OF MUNICH   (Germany)

^b LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^d TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^e Center for Human Genetics and Laboratory Medicine   (Germany)

Author keywords

ACD syndrome; Contractures; Ectodermal dysplasia; Ichthyosis; Skeletal anomalies; Total alopecia

Indexed keywords

ALOPECIA; ALOPECIA CONTRACTURES DWARFISM MENTAL RETARDATION SYNDROME; ARTICLE; CASE REPORT; CHROMOSOME ANALYSIS; CONTROLLED STUDY; DWARFISM; GENETIC DISORDER; HUMAN; LABORATORY TEST; MALE; MENTAL DEFICIENCY; NEWBORN; PHENOTYPE; PHOTOPHOBIA; PRIORITY JOURNAL; SCOLIOSIS; VERTEBRA MALFORMATION;

ALOPECIA; DWARFISM; FEMALE; HUMANS; MALE; MENTAL RETARDATION; MICROCEPHALY; PHENOTYPE; SYNDROME;

EID: 48149114479     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-007-0641-6     Document Type: Article

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