Spastic paraplegia, optic atrophy, microcephaly with normal intelligence, and XY sex reversal: a new autosomal recessive syndrome?

Author:

Teebi A S,Miller S,Ostrer H,Eydoux P,Colomb-Brockmann C,Oudjhane K,Watters G

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference17 articles.

1. for the Hereditary Spastic Paraplegia Working Group. Hereditary spastic paraplegia: advances in genetic research;Fink, J.K.; Heiman-Patterson, T.;Neurology,1996

2. Molecular genetics of familial spastic paraplegia: a multitude of responsible genes;E.P.;Neurol Sci,1996

3. Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families;Harding, A.E.;_7 Neurol Neurosurg Psychiatry,1981

4. Dandy Walker variant malformation, spastic paraplegia, and mental retardation in two sibs;Stoll, C.; Huber, C.; Alembik, Y.; Terrade, E.; Maitrot, D.;Am _JMed Genet,1990

5. Disorders of the gonads, genital tract and genitalia;Simpson, J.L.,1996

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2. Expanding the spectrum of syndromic PPP2R3C ‐related XY gonadal dysgenesis to XX gonadal dysgenesis;Clinical Genetics;2021-11-17

3. Prenatal Diagnosis of Sex Chromosome Abnormalities;Genetic Disorders and the Fetus;2021-04-20

4. Prenatal Diagnosis of Sex Chromosome Abnormalities;Genetic Disorders and the Fetus;2015-11-23

5. Disorders of the Gonads, Genital Tract, and Genitalia;Emery and Rimoin's Principles and Practice of Medical Genetics;2013

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