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Distinct familial syndrome of severe to profound mental retardation, spastic paraplegia with contrasting axial hypotonia, short stature and distinct craniofacial appearance with nasal hypoplasia.
Genet Couns. 1998; 9(1):51-4.GC

Authors+Show Affiliations

Fryns JP
Centre for Human Genetics, University of Leuven, Belgium.
Devriendt K
No affiliation info available
Detroch C
No affiliation info available
Decock P
No affiliation info available

MeSH

Child, PreschoolCraniofacial AbnormalitiesDevelopmental DisabilitiesDwarfismFollow-Up StudiesHumansInfantInfant, NewbornIntellectual DisabilityMaleMuscle HypotoniaNoseParaplegiaSyndrome

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

9555588

Citation

Fryns, J P., et al. "Distinct Familial Syndrome of Severe to Profound Mental Retardation, Spastic Paraplegia With Contrasting Axial Hypotonia, Short Stature and Distinct Craniofacial Appearance With Nasal Hypoplasia." Genetic Counseling (Geneva, Switzerland), vol. 9, no. 1, 1998, pp. 51-4.
Fryns JP, Devriendt K, Detroch C, et al. Distinct familial syndrome of severe to profound mental retardation, spastic paraplegia with contrasting axial hypotonia, short stature and distinct craniofacial appearance with nasal hypoplasia. Genet Couns. 1998;9(1):51-4.
Fryns, J. P., Devriendt, K., Detroch, C., & Decock, P. (1998). Distinct familial syndrome of severe to profound mental retardation, spastic paraplegia with contrasting axial hypotonia, short stature and distinct craniofacial appearance with nasal hypoplasia. Genetic Counseling (Geneva, Switzerland), 9(1), 51-4.
Fryns JP, et al. Distinct Familial Syndrome of Severe to Profound Mental Retardation, Spastic Paraplegia With Contrasting Axial Hypotonia, Short Stature and Distinct Craniofacial Appearance With Nasal Hypoplasia. Genet Couns. 1998;9(1):51-4. PubMed PMID: 9555588.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Distinct familial syndrome of severe to profound mental retardation, spastic paraplegia with contrasting axial hypotonia, short stature and distinct craniofacial appearance with nasal hypoplasia. AU - Fryns,J P, AU - Devriendt,K, AU - Detroch,C, AU - Decock,P, PY - 1998/4/29/pubmed PY - 1998/4/29/medline PY - 1998/4/29/entrez SP - 51 EP - 4 JF - Genetic counseling (Geneva, Switzerland) JO - Genet Couns VL - 9 IS - 1 SN - 1015-8146 UR - https://www.unboundmedicine.com/medline/citation/9555588/Distinct_familial_syndrome_of_severe_to_profound_mental_retardation_spastic_paraplegia_with_contrasting_axial_hypotonia_short_stature_and_distinct_craniofacial_appearance_with_nasal_hypoplasia_ L2 - http://www.diseaseinfosearch.org/result/5593 DB - PRIME DP - Unbound Medicine ER -