Author:
Horn Denise,Schottmann Gudrun,Meinecke Peter
Subject
Genetics (clinical),Genetics,General Medicine
Reference6 articles.
1. Brachytelephalangy, hyperphosphatasia and mental retardation: a newly recognized autosomal recessive condition;Gillessen-Kaesbach;Med. Genet.,1999
2. Hyperphosphatasia with mental retardation;Kruse;J. Pediatr.,1988
3. Familial hyperphosphatase with mental retardation, seizures, and neurologic deficits;Mabry;J. Pediatr.,1970
4. Severe mental retardation, epilepsy, anal anomalies, and distal phalangeal hypoplasia in siblings;Marcelis;Clin. Dysmorphol.,2007
5. Syndrome of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia in two sisters: nosology and genetics of the Coffin–Siris syndrome;Rabe;Am. J. Med. Genet.,1991