.
in the X‐linked mixed deafness syndrome (with perilymphatic gusher during stapes surgery). Int J Pediatr Otorhinolaryngol 1983; 6:179.
614 614. Kamdar F, Garry DJ. Dystrophin‐deficient cardiomyopathy. J Am Coll Cardiol 2016; 67:2533.
615 615. Politano L, Nigro V, Nigro G, et al. Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies. JAMA 1996; 275:1335.
616 616. Matthews PM, Benjamin D, van Bakel I, et al. Muscle X‐inactivation patterns and dystrophin expression in Duchenne muscular dystrophy carriers. Neuromuscul Disord 1995; 5:209.
617 617. Azofeifa J, Voit T, Hubner C, et al. X‐chromosome methylation in manifesting and healthy carriers of dystrophinopathies: concordance of activation ratios among first degree female relatives and skewed inactivation as cause of the affected phenotypes. Hum Genet 1995; 96;167.
618 618. Darras BT, Urion DK, Ghosh PS. Dystrophinopathies. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews® [internet]. Seattle (WA): University of Washington, Seattle, 1993–2020, September 5, 2000.
619 619. Schnur RE, Heymann WR. Reticulate hyperpigmentation. Semin Cutan Med Surg 1997; 16:72.
620 620. Emery AEH. Emery–Dreifuss syndrome. J Med Genet 1989; 26:637.
621 621. Viggiano E, Madej‐Pilarczyk A, Carboni N, et al. X‐linked Emery‐Dreifuss muscular dystrophy: study of X‐chromosome inactivation and its relation with clinical phenotypes in female carriers. Genes (Basel) 2019; 10:919.
622 622. Kong D, Zhan Y, Liu C, et al. A novel mutation of the EMD gene in a family with cardiac conduction abnormalities and a high incidence of sudden cardiac death. Pharmgenomics Pers Med 2019; 12:319.
623 623. Ropers HH, Wienker TF, Grimm T, et al. Evidence for preferential X‐chromosome inactivation in a family with Fabry disease. Am J Hum Genet 1977; 29:361.
624 624. Berger JR. Misdiagnosis of multiple sclerosis in a female heterozygote with Fabry's disease. Mult Scler Relat Disord 2019; 30:45.
625 625. Thompson EM, Baraitser M, Lindenbaum RH, et al. The FG syndrome: seven new cases. Clin Genet 1985; 27:582.
626 626. Vianna‐Morgante AM, Costa SS, Pares AS, et al. FRAXA premutation associated with premature ovarian failure. Am J Med Genet 1996; 64:373.
627 627. Sobesky WE, Taylor AK, Pennington BF, et al. Molecular/clinical correlations in females with fragile X. Am J Med Genet 1996; 64:340.
628 628. Franke P, Maier W, Hautzinger M, et al. Fragile‐X carrier females: evidence for a distinct psychopathological phenotype? Am J Med Genet 1996; 64:334.
629 629. Meloni T, Forteleoni G, Dore A, et al. Neonatal hyperbilirubinaemia in heterozygous glucose‐6‐phosphate dehydrogenase deficient females. Br J Haematol 1983; 53:241.
630 630. Mauser Bunchoten EP, van Houwelingen JC, Sjamsoedin Visser EJ, et al. Bleeding symptoms in carriers of hemophilia A and B. Thromb Haemost 1988; 59:349.
631 631. Vabres P, Larregu M. X‐linked genodermatoses. Ann Dermatol Venereol 1995; 122:154.
632 632. Rahbaran M, Doabsari MH, Salavitabar S, et al. A novel frameshift mutation in the EDA gene in an Iranian patient affected by X‐linked hypohidrotic ectodermal dysplasia. Call Mol Biol Lett 2019; 24:54.
633 633. Afzal S, Ramzan K, Ullah S, et al. A novel nonsense mutation in the STS gene in a Pakistani family with X‐linked recessive ichthyosis: including a very rare case of two homozygous female patients. BMC Med Genet 2020; 21:20.
634 634. Carmignac V, Nambot S, Lehalle D, et al. Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature. Clin Genet 2020; 98:43.
635 635. Endres W. Inherited metabolic diseases affecting the carrier. J Inherit Metab Dis 1997; 20:9.
636 636. Jung HH, Danek A, Walker RH, et al. McLeod neuroacanthocytosis syndrome. GeneReviews®. Seattle (WA): University of Washington, Seattle, 1993–2020, 2004 [updated 2019 May 23].
637 637. Lorette G, Toutain A, Barthes M, et al. Menkes syndrome: an unusual pigmentation anomaly in a mother and three sisters. Ann Pediatr 1992; 39:453.
638 638. Collie WR, Moore CM, Goka TJ, et al. Pili torti as marker for carriers of Menkes disease. Lancet 1978; 1:607.
639 639. Bartsocas CS, Kastrantas AD. X‐linked form of myopia. Hum Hered 1981; 31:199.
640 640. Nance WE, Warburg M, Bixler D, et al. Congenital X‐linked cataract, dental anomalies and brachymetacarpalia. Birth Defects Orig Artic Ser 1974; 10:285.
641 641. Kellner U, Fuchs S, Bornfeld N, et al. Ocular phenotypes associated with two mutations (R121W, C126X) in the Norrie disease gene. Ophthalmol Genet 1996; 17:67.
642 642. Charles SJ, Moore AT, Zhang Y, et al. Carrier detection in X‐linked ocular albinism using linked DNA polymorphisms. Br J Ophthalmol 1994; 78:539.
643 643. Erpenstein H, Pfeiffer RA. Geschlechsgebunden‐dominant erbliche Zahnunterzahl. Humangenetik 1967; 4:280.
644 644. Meroni G. X‐linked Opitz G/BBB syndrome. GeneReviews® Seattle (WA): University of Washington, Seattle, 1993–2020, 2004 [updated 2018 Apr 5].
645 645. Herinklake S, Boker K, Manns M. Fatal clinical course of ornithine transcarbamylase deficiency in an adult heterozygous female patient. Digestion 1977; 58:83.
646 646. Fries MH, Kuller JA, Jurecki E, et al. Prenatal counseling in heterozygotes for ornithine transcarbamylase deficiency in an adult heterozygous female patient. Digestion 1997; 58:83.
647 647. Etter JL, Moysich K, Kohli S, et al. Transmission of X‐linked ovarian cancer: characterization and implications. Diagnostics (Basel) 2020; 10:90.
648 648. Warshawsky I, Rudick RA, Staugaitis SM, et al. Primary progressive multiple sclerosis as a phenotype of a PLP1 gene mutation. Ann Neurol 2005; 58:470.
649 649. Kaplan J, Pelet A, Hentari H, et al. Contribution to carrier detection and genetic counseling in X linked retinoschisis. J Med Genet 1991; 28:383.
650 650. Souied E, Segues B, Ghazi I, et al. Severe manifestations in carrier females in X linked retinitis pigmentosa. J Med Genet 1997; 34:793.
651 651. Kurata K, Hosono K, Hayashi T, et al. X‐linked retinitis pigmentosa in Japan: clinical and genetic findings in male patients and female carriers. Int J Mol Sci 2019; 20:1518.
652 652. Ramocki MB, Peters SU, Tavyev YJ, et al. Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome. Ann Neurol 2009; 66:771.
653 653. McKusick VA. Mendelian inheritance in man, 11th edn. Baltimore, MD: Johns Hopkins University Press, 1994: 2530.
654 654. Sajorda BJ, Gonzalez‐Gandolfi CX, Hathaway ER, et al. Simpson‐Golabi‐Behmel syndrome type 1. GeneReviews® Seattle (WA): University of Washington, Seattle, 1993–2020, 2006 [updated 2018 Nov 29].
655 655. Ishihara H, Kanda F, Nishio H, et al. Clinical features and skewed X‐chromosome inactivation in female carriers of X‐linked recessive spinal and bulbar muscular atrophy. J Neurol 2001; 248:856.
656 656. Ahmad M, Abbas H, Haque S, et al. X‐chromosomally inherited split‐hand/split foot anomaly in a Pakistani kindred. Hum Genet 1987; 75:169.
657 657. McKusick VA. Mendelian inheritance in man, 11th edn. Baltimore, MD: Johns Hopkins University Press, 1994: 2535.
658 658. van den Berghe H, Dequeker J, Fryns JP, et al. Familial occurrence of severe ulnar aplasia and lobster claw feet: a new syndrome. Hum Genet 1978; 42:109.
659 659. Wengler G, Gorlin JB, Williamson JM, et al. Nonrandom inactivation of the X chromosome in early lineage hematopoietic cells in carriers of Wiskott–Aldrich syndrome. Blood 1995; 85:2471.
660 660. Peacocke M, Siminovitch KA. The Wiskott–Aldrich syndrome. Semin Dermatol 1993; 12:247.
661 661. Ziats CA, Schwartz CE, Gecz J, et al. X‐linked intellectual disability: phenotypic expression in carrier females.